Syndromic craniosynostosis and craniofacial disorders — formative SAQs

SAQ 1 (10)

A three-month-old infant presents with a tall, tower-shaped head, marked exorbitism with bilateral corneal exposure, midface hypoplasia, and severe symmetric syndactyly of all four limbs producing a mitten hand. The baby snores loudly and feeds slowly, crossing weight centiles downward. ^{[6] [7]}

a) What is the most likely diagnosis and its gene? Give the one-line problem representation that justifies the syndromic label. (2 marks) ^[1]

b) Outline the immediate resuscitation priorities, naming the three things that must be secured before any cosmetic vault surgery and the specific intervention for each. (4 marks) ^{[3] [7]}

c) Describe the investigation plan: the imaging that maps every fused suture and the brain, the airway investigation, the ophthalmology assessment, and the genetic test that confirms the gene. (2 marks) ^{[1] [6]}

d) State the inheritance and the recurrence risk for the next pregnancy, and the implication for parental testing. (2 marks) ^[6]