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John Radcliffe Hospital

The Oxford Craniofacial Unit

 

The Oxford Craniofacial Unit is located at the John Radcliffe Hospital and is one of the four highly specialised craniofacial units in the UK and is one of the busiest in the world, undertaking approximately 80 transcranial procedures and seeing over 1200 outpatients each year.

It is designated by the “Rare diseases” section of the Department of Health and NHS England, as one of the “highly specialised services” and so receives specific funding allocation.

The unit presents audit data nationally and internationally and publishes outcome-data widely. The unit has an international reputation and has continued to thrive year-on-year for over 35 years.

The unit manages both paediatric and adult patients with congenital and acquired craniofacial abnormalities. The largest patient group managed by the unit comprises paediatric patients with craniosynostosis. The treatment of this condition is primarily surgical, but the overall management is multi-disciplinary. The multi-disciplinary team (MDT) is large and includes plastic surgery, neurosurgery, maxillofacial surgery, ENT, paediatric anaesthesia, neuroradiology, orthodontics, speech and language therapy, clinical psychology, ophthalmology, orthoptics, and clinical genetics.

In Oxford, calvarial transcranial surgical procedures are performed by one of two plastic surgeons (S Wall and D Johnson), in combination with one of three paediatric neurosurgeons (P Richards, J Jayamohan and S Magdum).

The maxillofacial surgical elements of the service are supplied by P Carls.

There are two 3-session-day operating lists per week, plus access to neurosurgical lists for intra cranial pressure monitoring and other pure neurosurgical procedures.

There is a weekly MDT clinic for craniosynostosis patients. In addition, there is a weekly MDT radiology meeting where all radiographs are discussed. There is a monthly MDT clinic for patients requiring orthodontic and maxillofacial input and a weekly non-MDT craniofacial clinic. All clinics are led alternately by S Wall and D Johnson.

There is a monthly audit meeting, open to attendance by all members of the MDT. This meeting is led by either S Wall or D Johnson.

Our children’s advanced nurse practitioner (K Ashton) plays a valuable role in maintaining close contact with patients, both in the hospital and the community setting. At the heart of the coordination of the service are the Unit Service Support Manager (H Williams), our Clinical Liaison Officer (J Byren) and our secretary (J Wood). The unit database is managed by our Database Manager/Documentation Officer (K Phillips).  We have a dedicated filing system managed by our File Clerk/Assistant Secretary (S Kiani).  All typing is done in-house by our Audio-typist (J Jones).

With regard to research, the unit is fully integrated with Professor Wilkie’s research laboratory, which is world-leading in the molecular genetics of craniosynostosis.

Please click on the links below to view the Oxford Craniofacial Unit’s BBC2 documentaries.

The password is: greenwood

Episode one – A Fighting Chance

http://www.vimeo.com/22650505

Episode two – Smile

http://www.vimeo.com/24782151

Episode three – Rogue Gene

http://www.vimeo.com/24780837

Please note: these films work best if you press play and then press pause and leave them time for the grey bar to advance across the timeline at the bottom – a few minutes, depending on your internet speed.

Getting in touch

Referrals

We adhere to the model of one service on 4 sites and take referrals from GP’s, secondary providers and tertiary providers.  In addition we are happy to hear from patients directly and while we will always encourage a GP referral we are happy to provide advice on how best to facilitate this particularly when, as has been our experience, patients have been incorrectly told that they cannot have a referral.

‘I think my child has a Craniofacial Condition’ – What Next?

The first step is to get in touch with us, which is most easily done through your GP, Paediatrician or if necessary at our email address provided below.  Once we have understood what the problems are we can then advice on the next steps which may involve a review in one of clinics and we take things from there.

Specific Contacts

Kari Ashton, Advanced Nurse Practioner: 01865 231003

Jo Byren, Clinical Liaison Officer: 01865 231087

Helen Williams, Service Support Manager: 01865 231085

 

 

Maintaining Quality

Why should a child with craniosynostosis be referred specifically to one of the 4 highly specialized UK designated centres for craniofacial surgery?

Craniosynostosis is a rare and complex condition requiring highly specialized surgical treatment and complex multidisciplinary care.

It is designated by the `Rare diseases` section of the Department of Health and NHS England, as one of the “highly specialized services” and so receives specific funding allocation.

The Department of Health and NHS England recommends management of craniosynostosis to be carried out in one of four major well-resourced designated centres.  These are:-

Alder Hey Children’s Craniofacial Unit (Liverpool)

Birmingham Craniofacial Unit (Birmingham)

Oxford Craniofacial Unit (Oxford)

Craniofacial Unit, Great Ormond Street Hospital (London)

Referrals can be made directly to any of the 4 highly specialized centres without the need to go via regional services for permission or funding.  Referral does not need to be restricted to the closest geographical unit.

Treatment in any one of these 4 designated units has the following advantages:-

Large unit patient numbers (over 1000 outpatients seen in each unit per year and over 80 major surgical cases performed in each unit per year) facilitate:

Development and concentration of expertise

Audit and review of timely assessment of treatment

Enhance multidisciplinary working and decision making

Facilitate clinical research and the assessment of new techniques

Allow early detection of complications leading to improved outcomes

Attraction of high quality, specialist trained surgeons

Focusing government funding into specialist units allows necessary expensive equipment purchases.

Patient and family involvement is more supported in dedicated services.

Clinical members of all 4 designated units regularly attending national and international specialist meetings thus updating expertise.

Each of the 4 designated units regularly give scientific presentations at specialist meetings and publish their work in international scientific journals.

An annual audit meeting of the 4 designated units provides an effective forum for:

National audit and quality improvement activity

Developing national protocols

Ensuring equality of service provision

It is important to note that there is no such thing as simple craniosynostosis and an increasing proportion of these cases are recognized to have a genetic basis.  Even non-genetic single suture craniosynostosis cases are complex.  The surgical risks are no less important in this group of children compared with genetic syndromic cases and so all children with craniosynostosis will benefit by being treated in one of the 4 designated centres where the outcome data is nationally and internationally reviewed.

The 4 designated UK units thus provide an internationally respected method of delivering craniofacial care that is the envy of the rest of the world.

Reseach papers

2014

 Allison E, Evans RG, Wall S, Johnson D, Das S. Postoperative hypoalbuminemia following surgery related to craniosynostosis. Paediatr Anaesth. 2015 Jun 1

http://www.ncbi.nlm.nih.gov/pubmed/26033411

 

Fenwick AL, Goos JAC, Rankin J, Lord H, Lester T, Hoogeboom AJM, van den Ouweland AMW, Wall SA, Mathijssen IMJ & Wilkie AOM (2014). Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet 15:95.

http://www.biomedcentral.com/1471-2350/15/95

 

Babbs C, Lloyd D, Pagnamenta AT, Twigg SRF, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ, International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR &51 Wilkie AOM (2014). De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. J Med Genet. 51:737-747.

http://jmg.bmj.com/content/51/11/737.abstract

 

Dobbs TD, Watt-Smith SR, Wall SA, Johnson D. A novel use of the Rigid External Distraction Frame: Acute on-table distraction with autologous bone grafting. J Craniofac Surg. 2014, 25(5).

http://journals.lww.com/jcraniofacialsurgery/Abstract/2014/09000/A_Novel_Use_of_the_Rigid_External_Distraction.62.aspx

 

Thomas GP, Wall SA, Jayamohan J, Magdum SA, Richards PG, Wiberg A, Johnson D (2014). Lessons learned in posterior cranial vault distraction. J Cranio Surg 25:1721-7.

http://www.ncbi.nlm.nih.gov/pubmed/25162545

 

Dobbs TD, Wall SA, Richards PG, Johnson D (2014). A novel technique to secure the Rigid External Distraction (RED) frame in a thin skull allowing sutural mid-face distraction. J Craniomaxillifac Surg 14.

http://www.ncbi.nlm.nih.gov/pubmed/24530080

 

Bendon CL, Johnson D, Judge AD, Wall SA, Johnson D (2014). The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored by a novel method of preoperative and postoperative visual assessment. Plast Reconstr Surg 134:775e-86e

http://www.pubfacts.com/detail/25347653/The-aesthetic-outcome-of-surgical-correction-for-sagittal-synostosis-can-be-reliably-scored-by-a-nov

 

Wall SA, Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, Mcauley DJ, Richards PG (2014).  The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature. J Neurosurg Pediatr 26:1-8

http://www.pubfacts.com/detail/25259602/The-preoperative-incidence-of-raised-intracranial-pressure-in-nonsyndromic-sagittal-craniosynostosis

 

Erturan G, Holton J, Wall S, Giele H (2014).  Bartsocas- Papas Syndrome: A Case Report and Review of the Literature. Ann Plast Surg. 2014 Sep 30

http://www.ncbi.nlm.nih.gov/pubmed/25275471

 

2013

 Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JAC, Hoogeboom AJM, Brady AF, Jeelani NuO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, WGS500, Johnson D, Wall SA, van der Spek PJ, Mathijssen IMJ, Maxson RE, Twigg SRF & Wilkie AOM* (2013). Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nature Genet 45:304-307.

http://www.nature.com/ng/journal/v45/n3/full/ng.2531.html

 

Twigg SRF, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Akha ES, Knight SJL, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G & Wilkie AOM* (2013). Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signalling to regulation of osteogenesis. Nature Genet 45:308-313.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683605/

 

Twigg SRF, Babbs C, van den Elzen MEP, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis I, Akha ES, Knight SJL, Ceide RZ, Hoogeboom AJM, Passos-Bueno MR, Pober BR, Toriello HV, Wall SA, Brunner HG, Mathijssen IMJ & Wilkie AOM* (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet 22:1654-1662.

http://hmg.oxfordjournals.org/content/22/8/1654

 

Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB, Johnson D & Wilkie AOM* (2013). The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome – history repeating itself. Am J Med Genet 161A:1158-1163.

http://www.ncbi.nlm.nih.gov/pubmed/23532954

 

Swan MC, Scholz AF, Pretorius PM, Johnson D, Martinez-Devesa P, Wall SA. Lessons in the management of post-operative tension pneumocephalus complicating transcranial resection of advanced cutaneous tumours with free flap reconstruction. J Craniomaxillofac Surg. 2013. 41(8) 850-5.

http://www.ncbi.nlm.nih.gov/pubmed/23485485

 

Bendon CL, Sheerin FB, Wall SA, Johnson D. The relationship between scaphocephaly at the skull vault and skull base in sagittal synsotosis. J Craniomaxillofac Surg 2013 42(3) 245-9.

http://www.jcmfs.com/article/S1010-5182(13)00137-6/abstract

 

Henderson TO, Thomas GP, Wall SA (2013). Parental allografts in the management of Adams-Oliver syndrome. Chils Nerv Syst 29: 1223-4.

http://link.springer.com/article/10.1007/s00381-013-2174-9/fulltext.html

 

2012

 Sharma VP, Wall SA, Lord H, Lester T & Wilkie AOM* (2012). Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J 49:373-377.

http://www.ncbi.nlm.nih.gov/pubmed/22117175

 

Eley KA, Johnson D, Wilkie AOM, Jayamohan J, Richards P & Wall SA (2012). Raised intracranial pressure is frequent in untreated non-syndromic unicoronal synostosis and does not correlate with severity of phenotypic features. Plast Reconstr Surg 130:690e-697e.

http://www.ncbi.nlm.nih.gov/pubmed/23096622

 

Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AOM & Johnson D (2012).  Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet 13:104.

http://www.ncbi.nlm.nih.gov/pubmed/23140272

 

Thomas K, Hughes C, Johnson D, Das S. Anesthesia for surgery related to craniosynostosis: a review. Part 1. Paediatr Anaesth, 2012, 1460-9592.

https://www.mcgill.ca/anesthesia/files/anesthesia/cranio_review_1.pdf

 

Hughes C, Thomas K, Johnson D, Das S. Anesthesia for surgery related to craniosynostosis: a review. Part 2. Paediatr Anaesth, 2012, 1460-9592.

https://www.mcgill.ca/anesthesia/files/anesthesia/cranio_review_2.pdf

 

Wiberg A, Magdum S, Richards PG, Jayamohan J, Wall S, Johnson D. Posterior calvarial distraction in craniosynostosis – an evolving technique. J Craniomaxillofacial Surgery 2012, 799-806.

http://www.jcmfs.com/article/S1010-5182(12)00060-1/abstract

 

 

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AOM, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF & Boyadjiev SA (2012). A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature Genet 44:1360-1364.

http://www.nature.com/ng/journal/v44/n12/full/ng.2463.html

 

2011

 Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM,  Johnson D, Biesecker LG & Wilkie AOM* (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet 19:757-762

http://www.nature.com/ejhg/journal/v19/n7/full/ejhg201113a.html

 

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IMJ, Maher ER, Wilkie AOM, Kreiborg S, Thesleff I (2011). Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption and supernumerary teeth. Am J Hum Genet 89:67-81.

http://www.sciencedirect.com/science/article/pii/S0002929711002175

 

Johnson D & Wilkie AOM* (2011). Craniosynostosis. Eur J Hum Genet 19:369-376. http://www.nature.com/ejhg/journal/v19/n4/full/ejhg2010235a.html

 

MacIntosh C, Johnson D, Wall S. What are the effects of metopic synostosis on visual function. J Craniofac Surg. 2011 22(4): 1280-1283.

http://www.ncbi.nlm.nih.gov/pubmed/21772205

 

2010 

Kini U, Hurst JA, Byren JC, Wall SA, Johnson D & Wilkie AOM (2010). Etiological heterogeneity and clinical characteristics of metopic synostosis: evidence from a tertiary craniofacial unit. Am J Med Genet 152A:1383-1389.

http://www.ncbi.nlm.nih.gov/pubmed/20503312

 

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV & Wilkie AOM* (2010). Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in ‘paternal age-effect’ syndromes. Am J Med Genet 152A:2067-2073.

http://www.ncbi.nlm.nih.gov/pubmed/20635358

 

Wilkie AOM*, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJL, Lester T, Richards PG, Twigg SRF & Wall SA (2010). Prevalence and complications of single gene and chromosomal disorders in craniosynostosis. Pediatrics 126:e391-e400.

http://www.ncbi.nlm.nih.gov/pubmed/20643727

 

Bochukova EG, Soneji S, Wall SA & Wilkie AOM* (2010). Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet 47:803-808.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991042/

 

Uppal H, Issa F, Byren I, Johnson D. A case of pancalvarial osteomyelitis: Diagnosis and management. J Plast Reconstr Aesthet Surg. 2010, 63(2):e159-60.

http://www.jprasurg.com/article/S1748-6815(09)00394-5/abstract

 

Morritt DG, Yeh FJ, Wall SA, Richards PG, Jayamohan J, Johnson D. The management of isolated sagittal synostosis in the absence of scaphocephaly: A case series of eight. Plast Reconstr Surg, 2010, 126(2): 572-80.

http://journals.lww.com/plasreconsurg/Abstract/2010/08000/Management_of_Isolated_Sagittal_Synostosis_in_the.27.aspx

 

Woods RH, Johnson D. Absence of the anterior fontanelle due to a fontanellar bone. J Craniofac Surg. 2010, 21(2): 448-9.

http://www.ncbi.nlm.nih.gov/pubmed/20216454

 

2009

 Mansour SL, Twigg SRF, Freeland RM, Wall SA, Li C & Wilkie AOM (2009). Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet18:43-50.

http://www.ncbi.nlm.nih.gov/pubmed/18818193

 

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL & Wilkie AOM* (2009). Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30:204-211.

http://www.ncbi.nlm.nih.gov/pubmed/18726952

 

Twigg SRF, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IMJ & Wilkie AOM* (2009). Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84:698-705.

http://www.ncbi.nlm.nih.gov/pubmed/19409524

 

Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T & Wall SA (2009). Reoperation for intracranial hypertension in TWIST1 confirmed Saethre-Chotzen syndrome: a 15 year review. Plast Reconstr Surg 123:1801-1810.

http://www.ncbi.nlm.nih.gov/pubmed/19483581

 

Kirmi O, Lo SJ, Johnson D, Anslow P. Craniosynostosis: A Radiological and Surgical Perspective. Semin Ultrasound CT and MR. 2009 Dec;30(6):492-512. Review.

http://www.ncbi.nlm.nih.gov/pubmed/20099636

 

Wall SA, Butler L, Bryen J, Carls PF, Greenwood S, Mcknight M, Middleton J, Saeed N (2009). Combined internal and external  Le Fort 111 distraction osteogenesis—the “elusive vector”. J Craniofac Surg 20 Suppl 2:1806-8

http://www.ncbi.nlm.nih.gov/pubmed/19816354

 

Eley KA, Pleat JM, Wall SA (2009). Reconstruction of a congenital nasal deformity using skin tags as a chondrocutaneous composite graft. J Cranio Surg 20(2):573-5

http://www.ncbi.nlm.nih.gov/pubmed/19305262

 

van der Meulen J, van der Hulst R, van Adrichem L, Arnaud E, Chin-Shong D, Duncan C, Habets E, Hinojosa J, Mthijssen I, May p, Morritt D, Nishikawa H, Noons P, Richardson D, Wall SA, van der Vlugt L, Renier D (2009). The increase of metopic synostosis: a pan European observation. J Craniofac Surg 20:283-6

http://www.ncbi.nlm.nih.gov/pubmed/19326483

 

2008

Marucci DD, Johnston CP, Anslow P, Jayamohan J, Richards PG, Wilkie AOM & Wall SA (2008). Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis. Plast Reconstr Surg 122:217-224.

http://www.ncbi.nlm.nih.gov/pubmed/18594408

 

Saeed  NR, Wall SA, Dhariwal DK (2008). Management of positional plagiocephaly. Arch Dis Child 93(1):82-4

http://www.ncbi.nlm.nih.gov/pubmed/18156480

 

2007 

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Ørstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR & Wilkie AOM* (2007). RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity. Am J Hum Genet 80:1162-1170.

http://www.ncbi.nlm.nih.gov/pubmed/17503333

 

Wilkie AOM*, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O’ Rourke AW, Williams LJ, Seller A & Lester T (2006). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 143A:1941-1949.

http://www.pubfacts.com/detail/17621648/Clinical-dividends-from-the-molecular-genetic-diagnosis-of-craniosynostosis.

 

Macintosh C, Wall s, Leach C (2007). Strabismus in unicoronal synostosis: ipsilateral or contralateral? J Craniofac Surg. 18:465-9

http://www.ncbi.nlm.nih.gov/pubmed/17538304

 

Morritt DG, Goodacre TE, Wall SA (2007). A paramedian cleft of the lower lip. J Carniofac Surg 18:704-6

http://journals.lww.com/jcraniofacialsurgery/Abstract/2007/05000/A_Paramedian_Cleft_of_the_Lower_Lip.41.aspx

 

 2006 

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AOM, Passos-Bueno MR (2006). Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients. Cleft Palate Craniofac J 43:148-151.

http://www.ncbi.nlm.nih.gov/pubmed/16526918

 

Twigg SRF, Matsumoto K, Kidd AMJ, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJM, Mathijssen IMJ, Lourenço MT, Morton JEV, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA & Wilkie AOM* (2006). The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 78:999-1010.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474108/

 

Christofides EA, Richards P, Wall SA (2006). Late subperiosteal hematomata associated with craniofacial surgery. J Caraniofac Surg 17:390-4

http://journals.lww.com/jcraniofacialsurgery/Abstract/2006/03000/Late_Subperiosteal_Hematomata_Associated_with.35.aspx

 

Merril AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr (2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signalling in the pathogenesis of craniosynostosis. Hum Mol Genet 15:1318-28

 

2005 

Goriely A, McVean GAT, van Pelt AMM, O’Rourke AW, Wall SA, de Rooij DG & Wilkie AOM* (2005). Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102:6051-6056.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087921/

 

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AOM & Passos-Bueno MR (2005). Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 67:503-510.

http://www.ncbi.nlm.nih.gov/pubmed/15857417

 

Thomas GPL, Wilkie AOM, Richards PG & Wall SA (2005). FGFR3 P250R mutation increases the risk of re-operation in apparent “non-syndromic” coronal craniosynostosis. J Craniofac Surg 16:347-352.

http://www.ncbi.nlm.nih.gov/pubmed/15915095

 

Funato N, Twigg SRF, Higashihori N, Ohyama K, Wall SA, Wilkie AOM* & Nakamura M* (2005). Functional analysis of natural mutations in two TWIST protein motifs. Hum Mutat 25:550-556.

http://www.ncbi.nlm.nih.gov/pubmed/15880747

 

Hansen RMS, Goriely A, Wall SA, Roberts ISD & Wilkie AOM* (2005). Fibroblast growth factor receptor 2, gain-of-function mutations and tumourigenesis: Investigating a possible link. J Pathol 207:27-31.

http://www.ncbi.nlm.nih.gov/pubmed/16010693

 

2004

 Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM & Wilkie AOM* (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101:8652-8657.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC423250/

Rannan-Eliya SV, Taylor IB, de Heer IM, van den Ouweland AMW, Wall SA & Wilkie AOM* (2004). Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet 115:200-207.

http://www.ncbi.nlm.nih.gov/pubmed/15241680

 

Mohammed SN, Swan MC, Wall SA & Wilkie AOM (2004). Monozygotic twins discordant for frontonasal malformation. Am J Med Genet 130A:384-388.

http://www.ncbi.nlm.nih.gov/pubmed/15384079

 

 2003

 Johnson D, Kan S-h, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H & Wilkie AOM* (2003). Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 72:984-997.

http://www.ncbi.nlm.nih.gov/pubmed/12649808

Kan S-h, Johnson D, Giele H & Wilkie AOM (2003). An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 121A:69-74.

http://www.ncbi.nlm.nih.gov/pubmed/12900906

 

Garcia-Miñaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous MEM & Wilkie AOM* (2003). Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 11:892-895.

http://www.ncbi.nlm.nih.gov/pubmed/14571277

 

Johnson D. A comprehensive screen of genes implicated in craniosynostosis. Ann R Coll Surg Engl. 2003,85:371-377.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1964413/

 

2002

 Kan S-h, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SRF, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M & Wilkie AOM* (2002). Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472-486.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384921/

 

McIntyre JD, Rannan-Eliya SV, Wall SA (2002). Familial external angular dermoid: evidence for a genetic link? J Craniofac Surg 13: 311-4.

http://journals.lww.com/jcraniofacialsurgery/Abstract/2002/03000/Familial_External_Angular_Dermoid__Evidence_for_A.25.aspx

 

Nyabadza, M. Das, S Anaesthesia and the Internet-Editorial. British Journal of Anaesthesia, 2002; 88(3): 334-337.

http://bja.oxfordjournals.org/content/88/3/334.full

 

2001

Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM & Wilkie AOM* (2001). Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genet 27:17-18.

http://www.nature.com/ng/journal/v27/n1/full/ng0101_17.html

 

Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA & Wilkie AOM* (2001). A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat 18:535-541.

http://www.ncbi.nlm.nih.gov/pubmed/11748846

 

2000

 Johnson D, Iseki S, Wilkie AOM & Morriss-Kay GM (2000). Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 91:341-345.

 

 

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AOM & Jabs EW (2000). Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 66:768-777.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288162/

 

Wilkie AOM*, Tang Z, Elanko N, Walsh S, Twigg SRF, Hurst JA, Wall SA, Chrzanowska KH & Maxson RE Jr (2000). Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet 24: 387-390.

http://www.nature.com/ng/journal/v24/n4/full/ng0400_387.html

 

Johnson D, Wall SA, Mann S & Wilkie AOM* (2000). A novel mutation, Ala315Ser, in FGFR2: gene-environment interaction leading to craniosynostosis? Eur J Hum Genet 8:571-577.

http://www.ncbi.nlm.nih.gov/pubmed/10951518

 

Blair EM, Walsh S, Oldridge M, Wall SA & Wilkie AOM (2000). Newly recognised craniosynostosis syndrome that does not map to known disease loci. Am J Med Genet 95:4-9.

http://www.ncbi.nlm.nih.gov/pubmed/11074486

 

Johnson D, Wilkie AOM (2000). Pfeiffer syndrome is not caused by haploinsufficiency of FGFR2. J Craniofac Genet Dev Biol 20:109-111.

 

1999 

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SRF, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW & Wilkie AOM* (1999). De novo Alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64:446-461. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377754/

 

1998 

Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L & Wilkie AOM* (1998). A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1282-1293.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377539/

 

1997 

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM & Zackai EH (1997). A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.

http://www.ncbi.nlm.nih.gov/pubmed/9042914

 

Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M & Wilkie AOM* (1997). Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:1059-1062.

http://www.ncbi.nlm.nih.gov/pubmed/9107244

 

1996 

Slaney SF, Oldridge M, Hurst J, Morriss-Kay GM, Hall, CM, Poole MD & Wilkie AOM* (1996). Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 58:923-932.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914616/

 

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G & Wilkie AOM* (1996). Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 13: 48-53.

http://www.ncbi.nlm.nih.gov/pubmed/8673103

 

Wilkie AOM* & Wall SA (1996). Craniosynostosis: novel insights into pathogenesis and treatment. Curr Opin Neurol 9:146-152.

http://www.ncbi.nlm.nih.gov/pubmed/8782984?dopt=Abstract

 

1995 

Wilkie AOM*, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM & Reardon W (1995).  Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.  Nature Genet 9:165-172.

http://www.ncbi.nlm.nih.gov/pubmed/7719344

 

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD & Wilkie AOM (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9:173-176.

http://www.nature.com/ng/journal/v9/n2/abs/ng0295-173.html

 

Wilkie AOM*, Yang SP, Summers D, Poole MD, Reardon W, Winter RM. (1995). Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 32:174-180.

http://jmg.bmj.com/content/32/3/174.full.pdf

 

Oldridge M, Wilkie AOM, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJC, Goldin JH, Winter RM, Reardon W & Malcolm S (1995). Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4:1077-1082.

http://www.ncbi.nlm.nih.gov/pubmed/7655462?dopt=Abstract&holding=npg

 

1994

Wall SA, Goldin JH, Hockley AD, Wake MJ, Poole MD, Briggs M. Fronto-orbital re-operation in craniosynostosis. Br J Plast Surg. 1994 Apr;47(3):180-4. PubMed

PMID: 8193856.

 

 

 

Hartley, J.A. McAdam, S.R. Das, S. Roldan, M.C. Haskell, M.K. Lee, M. Molecular and cellular pharmacology of novel photoactive psoralen and coumarin conjugates of pyrrole and imidazole-containing analogues of netropsin Anti-Cancer Drug Design, 1994; 9 (3):181-97

http://www.ncbi.nlm.nih.gov/pubmed/8031451

 

 

Oxford Craniofacial Unit Presentations at Scientific Meetings and Invited Lectures

 

 

2014

 

A Novel Use Of The Rigid External Distraction (Red) Frame – Acute On Table Distraction With Autologous Bone Grafting. ESCFS, Paris Sept 2014 D Johnson

 

Combined Metopic And Sagittal Synostosis Leading To Trigonoscaphocephaly. A Single Stage Approach To Management. ESCFS, Paris Sept 2014 D Johnson

 

Lessons learnt in Posterior Cranial Vault Distraction ESCFS, Paris Sept 2014 D Johnson

 

The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored from pre and post-operative visual assessment ESCFS, Paris Sept 2014 D Johnson

 

Posterior Craniectomy in Clover Leaf Skull ESCFS, Paris Sept 2014 O Salahuddin

 

Invited Lecture: The Management of  Craniosynostosis Oxford Regional Genetics Training Day. Jun 2014

D Johnson

 

A Novel Use Of The Rigid External Distraction (Red) Frame – Acute On Table Distraction With Autologous Bone Grafting. ESPRAS, Edinburgh July 2014 T Dobbs

 

Lessons learnt in Posterior Cranial Vault Distraction. National 4 Unit Audit Day, London May 2014 D Johnson

 

Posterior Craniectomy in Clover Leaf Skull National 4 Unit Audit Day, London May 2014 O Salahuddin

 

Functional communication skills in Apert syndrome – genotype/phenotype correlation National 4 Unit Audit Day, London May 2014 L Smith

 

Update on ocular findings in craniofacial disorders National 4 Unit Audit Day, London May 2014 R Edminson

 

Exon sequencing to assist clinical diagnosis across the 4 units National 4 Unit Audit Day, London May 2014 AOM Wilkie

 

Genetic basis of craniofacial malformations – recruitment figures from the 4 units National 4 Unit Audit Day, London May 2014 J Phipps

 

2013

 

Invited Lecture: The surgical management of craniosynostosis. The Richard Doll Society Green Templeton College  Oxford 2013 D Johnson

 

 

Transcranial surgery in the neonatal period. National Craniofacial Audit Meeting Birmingham, May 2013 S Das

 

Raised Intracranial Pressure in Non Syndromic Sagittal Craniosynostosis Following Corrective Surgery. ISCFS XV Congress Jackson Hole

Sept 2013 G Thomas

 

Anaesthesia in the Prone Position Can Safely be Used to Facilitate the Complex Surgical Correction of Craniosynostosis.  A Series of 300 Consecutive Patients in 15 Years in Oxford, UK  ISCFS XV Congress Jackson Hole  Sept 2013

R Evans

 

Raised Intracranial Pressure in Untreated Non-Syndromic Sagittal Craniosynostosis: An Eighteen Year Experience in Oxford. ISCFS XV Congress Jackson Hole Sept 2013

S Wall

 

Postoperative Serum Albumin Level and Clinical Implications in Paediatric Craniofacial Surgery. A Review of 50 Cases in Oxford, UK. ISCFS XV Congress Jackson Hole Sept 2013 S Das

 

Non-Scaphocephalic Sagittal Synostosis and Raised Intracranial Pressure are Part of the Clinical Spectrum of Frank-Ter Haar Syndrome. ISCFS XV Congress Jackson Hole Sept 2013 CL Bendon

 

“Black Bone” MRI: Changing the Face of Craniofacial Imaging. ISCFS XV Congress Jackson Hole Sept 2013 K Eley

 

How Does Cephalic Index at the Skull Vault Relate to Cephalic Index at the Skull Base in Children with Unoperated Isolated Sagittal Synostosis? ISCFS XV Congress Jackson Hole Sept 2013 D Johnson

 

The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored from pre and post-operative visual assessment BAPRAS Winter Scientific Meeting, Dublin Nov 2013 C Bendon

 

 

2012

 

Invited Lecture: Craniosynostosis APSICON meeting. Luclnow, India. Nov  2012

D Johnson

 

An unusual complication following a traditional Le Fort III advancement National Craniofacial Audit Meeting Oxford, May 2012 D Johnson

 

CNS telephone clinics. National Craniofacial Audit Meeting Oxford, May 2012 S Greenwood

 

Evaluation of a pre and post-surgery photobook – a pilot study. National Craniofacial Audit Meeting Oxford, May 2012 H Care

 

Severity and progression of deformity at the skull base and vault in sagittal synostosis. National Craniofacial Audit Meeting Oxford, May 2012 C Bendon

 

Hair preparation for patients undergoing craniofacial surgery. National Craniofacial Audit Meeting Oxford, May 2012 M Inciate

 

The Fibroblast Growth Factor Receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome – History Repeating itself. National Craniofacial Audit Meeting Oxford, May 2012  S Jay

 

Frank-ter Haar syndrome associated with sagittal synostosis and raised ICP. National Craniofacial Audit Meeting Oxford, May 2012  C Bendon

 

ERK-related craniosynostosis. National Craniofacial Audit Meeting Oxford, May 2012  AOM Wilkie

 

Coronal Synostosis: A novel disease gene revealed by exome sequencing National Craniofacial Audit Meeting Oxford, May 2012  AOM Wilkie

 

9 year review of the Oxford Craniofacial Molecular Diagnostic Service. National Craniofacial Audit Meeting Oxford, May 2012  AOM Wilkie

 

 

2011

 

Self-Stabilizing “S”-Osteotomy Increases Flexibility in Fronto-Orbital Surgery for Craniosynostosis ISCFS XIV Biennial  International Congress Zambia Aug 2011 D Johnson

 

Oxford Craniofacial Unit Audit of blood conservation techniques in paediatric transcranial surgery. ISCFS XIV Biennial  International Congress Zambia Aug 2011 S Das

 

 

Self-Stabilizing “S”-Osteotomy Increases Flexibility in Fronto-Orbital Surgery for Craniosynostosis BAPRAS Summer Meeting Jul 2011 D Johnson

 

Invited Lecture: The Management of Craniosynostosis. South West Region Plastic Surgery Training Day, Exeter, Oct 2011 D Johnson

 

Invited Lecture: Craniosynostosis. Oxford Regional Paediatric Training Day, Oxford Dec 2011 D Johnson

 

Invited Lecture: Craniofacial surgery and the importance of clinical and research genetics Department of Genetics, University of Pretoria, SA Aug 2011 SA Wall

 

Invited Lecture: Craniofacial surgery Headlines Craniofacial Support Charity Meeting 2011

D Johnson

 

Invited Lecture: Craniosynostosis Oxford Regional Paediatric Training Day Dec 2011

D Johnson

 

 

2010

 

Invited Lecture: Aetiology and Genetics of Craniosynostosis Oxford Craniofacial Study Day, Oxford Sept 2010 AOM Wilkie

 

Invited Lecture: Clinical features of Craniofacial Syndrome  Oxford Craniofacial Study Day, Oxford Sept 2010 M McKnight

 

Invited Lecture: Surgical Management of Craniosynostosis  Oxford Craniofacial Study Day, Oxford Sept 2010 D Johnson

 

Invited Lecture: Neurosurgical Management of Craniofacial Patients

Oxford Craniofacial Study Day, Oxford Sept 2010 J Jayamohan

 

Invited Lecture: Midface Distraction Oxford Craniofacial Study Day, Oxford Sept 2010 N Saeed

 

Invited Lecture: Aetiology and Management of Hypertelorism  Oxford Craniofacial Study Day, Oxford Sept 2010 SA Wall

 

Invited Lecture: Mandibular Abnormalities (Hemifacial Microsomia, Treacher Collins) Oxford Craniofacial Study Day, Oxford Sept 2010 N Saeed

 

Invited Lecture: Midface Surgery in Syndromic Craniosynostosis BAPRAS Advanced Educational Course in Craniofacial Surgery and Facial Transplantation Manchester 2010 SA Wall

 

Invited Lecture: Sutures, syndromes and synostosis BAPRAS Advanced Educational Course in Craniofacial Surgery and Facial Transplantation Manchester 2010 SA Wall

 

Invited Lecture: Anaesthesia for Craniofacial Surgery. Wessex Anaesthesia for Children Annual Meeting, Basingstoke 2010.  S Das

 

 

Posterior Distraction –The Oxford Experience. National 4 Unit Audit Day, London May 2010 D Johnson

 

Anterior fontanellar bones. National 4 Unit Audit Day, London May 2014 D Johnson

 

Posterior calvarial distraction in craniosynostosis –An evolving technique. BAPRAS Winter Scientific Meeting London Nov 2010 A Wieberg

 

An integrated approach to the management of meningoencephaloceles in Oxford. – A case series of 29. BAPRAS Winter Scientific Meeting London Nov 2010 E Tan

 

 

2009

 

 

Invited Lecture: Craniosynostosis Oxford Regional Paediatric Training Day 2009

D Johnson

 

Major Bone Loss Due To Infection After Distraction ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

Lefort 3 With Red And Internal Distractors ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

Posterior Distraction With A Unilateral Distractor. ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

Foramen Magnum Decompression In Syndromic Craniofacial Dysostosis ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 J Jayamohan

 

Primary And Secondary Raised ICP In Synostosis ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

Fixation In Synostosis Surgery – How Much Is Needed? ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

V-Y Advancement In Hypertelorism Correction ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 S Wall

 

Genes In The Craniofacial Clinic: From Syndrome Description To Clinical Practice ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 A Wilkie

 

Intracranial Pressure Changes In Children With Apparently Non-Syndromic Unicoronal Synostosis ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 KA Eley

 

Reoperation For Intracranial Hypertension In Twist1 Confirmed Saethre-Chotzen Syndrome ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 RH Woods

 

The Management Of Isolated Sagittal Synostosis In The Absence Of Scaphocephaly: A Case Series Of Eight ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 DG Morritt

 

Frontorhiny, A Distinctive Presentation Of Frontonasal Dysplasia Caused By Recessive Mutations In The Alx3 Homobx Gene ISCFS XIII Biennial  International Congress. Oxford. Sept 2009 SRF Twigg

 

 

2008

 

 

Invited Key Note Speaker XXXVIII Congreso Argentino De Cirugia Plastica

Buenos Aires Apr 2008  SA Wall

 

Surgical Options in Craniosynostosis XXXVIII Congreso Argentino De Cirugia Plastica

Buenos Aires Apr 2008  SA Wall

 

Midfacial Distraction Osteogenesis XXXVIII Congreso Argentino De Cirugia Plastica

Buenos Aires Apr 2008  SA Wall

 

Minimal Rigid Fixation in Calvarial Remodelling XXXVIII Congreso Argentino De Cirugia Plastica Buenos Aires Apr 2008  SA Wall

 

Surgical Correction of Hypertelorism XXXVIII Congreso Argentino De Cirugia Plastica

Buenos Aires Apr 2008  SA Wall

 

Craniofacial Osteomata XXXVIII Congreso Argentino De Cirugia Plastica

Buenos Aires Apr 2008  SA Wall

 

Surgical Management of Fractures of the Frontal Sinus XXXVIII Congreso Argentino De Cirugia Plastica Buenos Aires Apr 2008  SA Wall

 

Invited Lecture: ICP in Single Suture Synostosis- Raised Pressure and re-operation rates in Non-syndromic Synostosis ACMF (America) Course : Interdisciplinary Problem-Solving in Paediatric Neurosurgery and Craniomaxillofacial Surgery Phoenix Arizona Mar 2008

SA Wall

 

Invited Lecture: Craniofacial Dermoids and Osteomata ACMF (America) Course : Interdisciplinary Problem-Solving in Paediatric Neurosurgery and Craniomaxillofacial Surgery Phoenix Arizona Mar 2008

SA Wall

 

Invited Lecture: Overview of Hypertelorism ACME( Europe) Course : Paediatric Craniomaxillofacial Surgery Oxford Mar 2008 SA Wall

 

Invited Lecture: Craniosynostosis Paediatric Maxillofacial Surgery European Symposium Oxford Mar 2008 D Johnson

 

Invited Lecture: Hypertelorism Paediatric Maxillofacial Surgery European Symposium Oxford Mar 2008 SA Wall

 

Invited Lecture: Craniofacial surgery Paediatric Grand Round, Oxford 2008 D Johnson

 

Invited Lecture: The surgical management of craniosynostosis Oxford Craniofacial Study Day 2008 D Johnson

 

 

2007

 

Implications Of A Progressive Vertex Bulge Following Modified Strip Craniectomy For Sagittal Synostosis ISCFS XII Biennial International Congress Salvador, Brazil Aug, 2007 D Marucci

 

Invited Lecture: Craniofacial Surgery  Milton Keynes General Hospital Medical Education  Day Jun 2007 D Johnson

 

Invited Lecture: Paediatric craniofacial surgery Paediatric Grand Round, Oxford 2007 D Johnson

 

Invited Lecture: Craniofacial surgery St Johns College Douglas Society, Oxford 2007 SA Wall

 

Invited Lecture: Craniofacial problems in children Paediatric Grand Round, Reading 2007 D Johnson

 

Invited Lecture: Craniofacial conditions Paediatric Training Day Oxford 2007 D Johnson

 

Invited Lecture:  An overview of craniofacial surgery Oxford Spires Cleft Meeting, Oxford 2007 D Johnson

 

Invited Lecture:  Craniosynostosis – conditions and management  Paediatric Nurse Training Day, Oxford Dec 2007 D Johnson

 

 

2006

 

Segmental orbital distraction osteogenesis The Oxford experience 5th International Congress of Maxillofacial and Craniofacial Distraction Paris Jun 2006 SA Wall

 

Invited Lecture:  Craniofacial conditions  Exeter Plastic Surgery Training Day Dec 2006 D Johnson

 

 

2005

 

Fgfr3 P250r Mutation Is A Marker For Increased Re-Operation Rate In Coronal Synostosis ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 G Thomas

 

Raised Intracranial Pressure In Late Presenting Sagittal Synostosis – The Oxford Experience ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 S Wall

 

Lambdoid Synostosis: The Oxford Experience ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 MA Musgrave

 

Combined Internal And External Distraction Osteogenesis At The Lefort III Level – An Approach To The ‘Elusive Vector’ ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 S Wall

 

Nurse Specialist Care And Advice To Families Coping With Distraction Devices ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 S Greenwood

 

Scientific Poster Presentation. Simple Angular Dermoids – Not So “Simple’ ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 SA Wall

 

Late Subperiosteal Haematomata Associated With Craniofacial Surgery ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 SA Wall

 

Monozygotic Twins Discordant For Frontonasal Malformation ISCFS XIII Biennial International Congress. Coolum, Australia Sept 2005 M Swan

 

2004

 

Distraction Rate And Retention Time During Distraction Osteogenesis – Assessing The Regenerate Using Ultrasound 3rd International Oxford Distraction Symposium of the Craniofacial Skeleton & 1st International Oxford Distraction Course Oxford 2004 P Carls

 

Distraction At The Le-Fort III Level In Children 3rd International Oxford Distraction Symposium of the Craniofacial Skeleton & 1st International Oxford Distraction Course Oxford 2004 SA Wall

 

Invited Lecture: Diagnosis and Treatment in Craniosynostosis PGEA Meeting, Thame Health Centre Thame Jun 2004 SA Wall

 

 

2003

 

Invited Lecture: Craniofacial Surgery Part 1 Oxford Paediatric Plastic Surgery Course

St Hugh’s College, Oxford Sept 2003 SA Wall

 

Invited Lecture: Craniofacial Surgery Part 2 Oxford Paediatric Plastic Surgery Course

St Hugh’s College, Oxford Sept 2003 SA Wall

 

 

2002

 

Distraction at the Le Fort III level in children BAOMS Meeting Jun 2002 P Carls

 

 

Mid-facial distraction osteogenesis in a patient with pycnodysostosis

2nd International Oxford Distraction Symposium of the Craniofacial Skeleton Oxford Mar 2002 H Taqvi

 

Distraction at the Le-Fort III Level in children 2nd International Oxford Distraction Symposium of the Craniofacial Skeleton Oxford Mar 2002 SA Wall

 

Midfacial Distraction Osteogenesis – The Combined Oxford and Birmingham Experience. The Association Of Plastic & Reconstructive Surgeons Of Southern Africa Annual Congress  Oct 2002 SA Wall

 

2001

 

Hunterian Professorship Oration 2001/2002 – Royal College of Surgeons of England.

Title of lecture: A comprehensive screen of genes implicated in craniosynostosis.

RCS, London on 29th November, 2001

  1. Johnson

 

Invited Lecture: Genetics and plastic surgery  The New Genetics and Surgery – Symposium at the RCS England, June 2001D Johnson

 

 

2000

 

The Role of 3D CT In The Management Of Craniofacial Conditions – Is Beauty Only Skin Deep? BAPRAS Winter Meeting London 2000 P Anslow

 

Midfacial Distraction Osteogenesis – The Combined Oxford And Birmingham Experience BAPRAS Winter Meeting London 2000 SA Wall

 

Lateral Switch-Rotation Technique For Total Calvarial Remodelling In Late Presenting Sagittal Synostosis BAPRAS Winter Meeting London 2000 SA Wall

 

Craniofacial Approach To Major Inter-Orbital Transcranial Osteomata BAPRAS Winter Meeting London 2000 DGK Lam

 

Monozygotic Twins Discordant For Frontonasal Malformation BAPRAS Winter Meeting London 2000 M Swan

 

1999

 

A Comprehensive Screen For Twist Mutations In Saethre-Chotzen Syndrome Identifies A New Microdeletion Disorder Of Chromosome 7 ISCFS VIII Biennial International Congress. Taipei, Taiwan. Sept 1999 D Johnson

 

The Increased Incidence Of Wormian Bones In Plagiocephaly Without Synostosis ISCFS VIII Biennial International Congress. Taipei, Taiwan. Sept 1999 WJC Van Niekerk

 

Saethre-Chotzen Syndrome: A Comprehensive Screen For Mutations In The Twist Gene 12th Congress of the International Confederation for Plastic, Reconstructive and Aesthetic Surgery San Francisco, USA Jun 1999 D Johnson

 

1998

 

Invited Lecture: Options in Calvarial and Forehead Remodelling BAPS Advanced Course in Plastic Surgery: Craniofacial Surgery and Facial Re-animation, Oxford 1998 SA Wall

 

Invited Lecture: Frontal Fractures and the Frontal Sinus BAPS Advanced Course in Plastic Surgery: Craniofacial Surgery and Facial Re-animation, Oxford 1998 SA Wall

 

A Comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1 American Society of Human Genetics Meeting, Dever USA 2008 D Johnson

 

1997

 

A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene is a frequent cause of non-syndromic coronal craniosynostosis 1st Annual Meeting, Royal College of Paediatrics and Child Health Apr 1997 D Moloney

 

Invited Lecture:  Craniofacial surgery Paediatric Nurse Training Day, Oxford 1997 SA Wall

 

A 37 year follow-up of Apert patients Poster Presentation BAPS Winter Meeting Dec 1997 D Maloney

 

1996

 

Craniofacial Surgery Craniofacial Developmental Biology Course Oxford 1996  SA Wall

 

Between Straight and Stealth for Coronal Incisions? APRSSA Congress Johannesburg, SA Aug 1996 MA Kelly

 

Apparent Inferior Oblique overaction in Craniofacial disorders.  Aetiology and Management. The Midland Ophthalmological Society. Birmingham, Nov 1996 KK Nischal

 

 

Scientific Poster Presentation. Surgical Correction for apparent Inferior Oblique overaction in Craniofacial Disorders Canadian Congress of Ophthalmology Ottawa Jul 1996  KK Nischal

 

Scientific Poster Presentation. Ocular movement disorders in the Craniosynostoses. The Paediatric Ophthalmology symposium. The Children’s Hospital Warsaw Poland 1996 KK Nishcal

 

A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene is a major contributor to non-syndromic coronal craniosynostosis. BAPRAS winter meeting. Dec 1996  D Moloney

 

Apert syndrome: the clinical features and genetic basis BAPS Winter Meeting Dec 1996 S Slaney

 

1995

 

Between Straight and Stealth: An alternative coronal incision BAPRAS Winter Meeting. Dec 1995 SA Wall

 

Clamp guided Transnasal Canthopexy BAPRAS Winter Meeting. Dec 1995 SA Wall

 

1993

 

Fronto-orbital Re-operation and the Timing of Surgery in Craniosynostosis APRSSA National Congress Wild Coast, SA Aug 1993 SA Wall

The Team

Please see below for details on the members of the team. It may not be necessary for you or your child to meet everyone. However, it is important that you have access to the support and specialist care that you and your child may need.

The Multidisciplinary Team

00025464
Mr David Johnson
00025640
Mr Steven Wall

Mr David Johnson and Mr Steven Wall are Consultant Plastic and Reconstructive Surgeons. Mr David Johnson is Clinical Director and leader of the Oxford Craniofacial Unit. Mr Johnson and Mr Wall lead all craniofacial clinics and coordinate the clinical aspects of the whole multi-disciplinary team.  They make diagnosis and management decisions on all craniofacial conditions and are responsible for making all surgical reconstructive decision plans.  In paediatric cases, they assess the growth of the skull and monitor potential signs and symptoms of raised intracranial pressure.  In adult cases, they are responsible for both functional and aesthetic reconstructive surgery.

00025639
Mr Jay Jayamohan
00025468
Mr Shailendra Magdum

Mr Jay Jayamohan and Mr Shailendra Magdum are Consultant Paediatric Neurosurgeons. Their special area of interest is the nervous system, including the brain and spine.  Many of the conditions that are treated in the Unit are associated with problems in these areas. They understand the implications of restricted skull growth on the developing brain, and work with the other specialists to develop an effective treatment plan to maximize the proper functioning of a child’s brain, spinal cord, and nerves, especially where there is restriction in the growth of the skull or abnormalities with the brain that may need surgical treatment.

Dr_Peter_Carls
Mr Peter Carls
wpe5d88209_05
Mary McKnight

Many of the conditions treated by the craniofacial team can affect the growth of the teeth, jaws and face. The members of the team who look after this aspect are maxillofacial surgeons and orthodontists, who specialise in the development and management of the face, teeth and jaws. Mr Peter Carls is our locum oral and maxillofacial surgeon and Miss Mary McKnight, is the consultant orthodontist. If we think you or your child needs advice with these aspects, you will be assessed by these team-members, initially as part of the MDT held on Friday mornings, and if further advice or treatment is required, follow-up appointments may be made in the Department of Maxillofacial Surgery and Orthodontics.

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Miss Penny Lennox
Mr James Ramsden
Mr James Ramsden

Miss Penny Lenox and Mr James Ramsden are Consultant Paediatric ENT Surgeons. They provide expert care for our patients requiring help with hearing and airway problems.

Dr Russel Evans
Dr Russel Evans
Dr Sumit Das
Dr Sumit Das
Dr Emily Williams
Dr Emily Williams

Dr Russell Evans, Dr Sumit Das and Dr Emily Williams are Consultant Paediatric Anaesthetists. Their role is to perform the anaesthetic for children undergoing craniofacial surgery. They will meet the parents before the operation to explain the anaesthetic and make plans for post-operative pain relief and care on the High Dependency Unit.

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Sue Greenwood

Our specialist nurse is Sue Greenwood (Children’s Advanced Nurse Practitioner). Her role is to guide families through the outpatient process and through any hospital admissions, working alongside the nursing staff on the children’s wards and PHDU/PITU. She also liaises closely with local health visitors and community nursing teams to ensure the best all-round care for our patients. She is available to discuss any queries you may have prior to your first visit or at any stage after that. Please feel free to ring her at any time on 01865 231003

Professor Andrew Wilkie
Professor Andrew Wilkie
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Dr Deirdre Cilliers
Julie Phipps
Julie Phipps

Professor Andrew Wilkie (Honorary Consultant) and Dr. Deirdre Cilliers are Consultant Clinical Geneticists. Julie Phipps is our Clinical Genetics Research Nurse. Some craniofacial conditions are caused by an alteration in one of the genetic instructions. The clinical genetics team provides advice on diagnosis, on the implications as regards to having further children, and on the availability of genetic tests for the conditions involved. In addition Prof. Wilkie directs a laboratory where research is undertaken to identify new genetic causes in those children for whom a genetic link is suspected, but the NHS testing has given normal results.

Dr Louis Dalton
Dr Louis Dalton
Dr Helen Care
Dr Helen Care
Dr Sian Thomas
Dr Sian Thomas

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Dr Louise Dalton, Dr Helen Care and Dr Sian Thomas  are clinical psychologists. The role of the clinical psychologist is to offer support to patients and their families at whatever age or stage of treatment it may be needed. They can offer time to discuss concerns about development, behaviour, and self-image, and about how problems in these areas may be affecting life in the family, in the wider social world, and at school.

Carrie Luscombe
Carrie Luscombe

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Lucy Southby
Lucy Southby
Sarah Kilcoyne
Sarah Kilcoyne

Carrie Luscombe, Lucy Southby and Sarah Kilcoyne, our Specialist Speech and Language Therapists, assess all aspects of speech, language and communication. Carrie, Lucy and Sarah monitor development in these areas and can provide support where necessary. Their role also includes providing assessment and advice on difficulties with feeding and swallowing. The teams liaise closely with local speech and language therapy services to ensure patients receive comprehensive care.

The Speech and Language Therapist is responsible for maximising the individual’s potential for feeding and communication development, in the context of their craniofacial condition. This is achieved through collaborative specialist inter-disciplinary diagnosis, assessment, planning and management within a multispecialty tertiary referral unit.

Additional information about the specialist management of craniofacial conditions can be found at the Royal College of Speech and Language Therapist’s website:

https://www.rcslt.org/clinical_resources/craniofacial/overview

Mr Darius Hildebrand
Mr Darius Hildebrand
Mr Jonathan Norris
Mr Jonathan Norris
Claire McIntosh
Claire McIntosh
Rachel Edminson
Rachel Edminson

Most of the patients who come to the Craniofacial Unit have their eyes assessed by the craniofacial orthoptist, who will check vision, assess how well the eyes work together (i.e. detect any squint) and whether the eye muscles are working normally. The orthoptists working with the craniofacial team are Mrs Claire MacIntosh and Mrs Rachel Edminson. One of the ophthalmologists working with the team, Mr Darius Hildebrand and Mr Jonathan Norris, may perform a more detailed examination of the eyes. The orthoptists will also liaise with local services where appropriate.

Dr Fintan Sheerin
Dr Fintan Sheerin

Dr Fintan Sheerin, Consultant Neuroradiologist, provides reports for our CT and MRI scans.

Dr Jo Byren
Dr Jo Byren
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Helen Williams
Judith Wood
Judith Wood
Jacky Jones
Jacky Jones
Keith Phillips
Keith Phillips
Shahida Kiani
Shahida Kiani

Dr Jo Byren is our Clinical Liaison Officer. Her role is to help organize appointments and tests and to ensure our patients and their families are kept up to date with treatment plans.

Helen Williams is the Service Support Manager. Her role is to work closely with all the professionals and nursing staff involved with the Unit. She makes sure administrative support is provided and that the service runs as smoothly and efficiently as possible.

Of course, there are many other staff within the hospital who work with the Craniofacial Unit, including ward staff, theatre staff, x-ray staff, receptionists, porters, cleaners and dieticians to name a few, without whom we could not offer you and your child the care they receive.