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]

SAQ 2 (10)

A two-year-old was labelled with nonsyndromic right unicoronal craniosynostosis and had an endoscopic strip craniectomy at five months. She re-presents with recurrent coronal fusion needing reoperation, a broad, short medially-deviated right great toe, and newly diagnosed sensorineural hearing loss. [12] [1]

a) What is the most likely unrecognised diagnosis, its gene and recurrent variant, and why is it so often mistaken for nonsyndromic disease? (3 marks) [12]

b) What does the evidence show about this variant and the risk of reoperation, and what is the safeguard test that should have been sent at diagnosis? (2 marks) [12]

c) Outline the surveillance this child should now receive across airway, hearing, intracranial pressure and development, and explain why each matters. (3 marks) [7] [9]

d) The parents ask whether a future child could be affected. State the recurrence risk, the prenatal options, and the counselling about mildly affected family members. (2 marks) [6] [12]