Syndromic craniosynostosis and craniofacial disorders — branching viva

Branching viva on syndromic craniosynostosis: recognising the head-face-limb fingerprint, naming the big six by gene, mapping every fused suture, securing the airway, the exposed eye and raised intracranial pressure before any cosmetic plan, and coordinating an age-based craniofacial team.

branching clinical structured oral1 min readVerification in progress

Prompt

A three-month-old infant with a tower-shaped head, marked exorbitism with corneal exposure, midface hypoplasia, loud snoring, and severe symmetric syndactyly of all four limbs. The examiner asks: what is the diagnosis and its gene, why do the features travel together, what are your immediate priorities, what investigation confirms it — then branches to the airway and eye safety, the inheritance and recurrence counselling, and finally to a two-year-old re-presenting with recurrent coronal fusion, a broad great toe and hearing loss after being labelled nonsyndromic.

Opening question

A three-month-old infant has a tower-shaped head, marked exorbitism with corneal exposure, midface hypoplasia, loud snoring, and severe symmetric syndactyly of all four limbs. What is the diagnosis and its gene, why do the head, face and limb travel together, and what is the one-line problem representation? [1] [7]

Paediatrics Fellowship Pro

You have read the opening of this viva. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References6Show ledger

[1]Twigg SR, Wilkie AO. New insights into craniofacial malformations. Hum Mol Genet, 2015.PMID 26085576
[2]Sharma VP, Fenwick AL, Brockop MS, et al. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet, 2013.PMID 23354436
[3]Kreiborg S, Cohen MM Jr. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg, 2010.PMID 20856021
[7]Fernandes MB, Maximino LP, Perosa GB, et al. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. Am J Med Genet A, 2016.PMID 27028366
[9]Wenger TL, Hopper RA, Rosen A, et al. A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med, 2019.PMID 29915381
[12]Thomas GP, Wilkie AO, Richards PG, Wall SA. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. J Craniofac Surg, 2005.PMID 15915095