Counsel parents of a newborn with suspected syndromic craniosynostosis — OSCE

Candidate brief

You have eight minutes to counsel the parents of a three-week-old infant given a probable diagnosis of Apert syndrome after a tower-shaped head, exorbitism and mitten-hand syndactyly were noted postnatally. Use a structured, honest, empathic approach that names the genetic basis, the airway-eye-pressure safety triad and the staged surgical pathway, and builds a shared plan. [1] [7]

Key teaching and communication objectives

Acknowledge and validate the parents' fear before delivering information, and allow silence. Explain in plain language that their baby's head, face and hands are shaped by a single change in one gene — a fibroblast growth factor receptor — and that the same change fuses the skull sutures early, makes the orbits shallow and shapes the fingers, which is why the features travel together rather than being three separate problems. [1]

Address the eye question directly. The shallow orbits push the eyes forward so the lids cannot close fully, which exposes the cornea to drying and ulceration; lubricating the eye now protects the sight, and that runs in parallel with, and before, any operation on the skull, because the cornea will not wait for the craniofacial timetable. [3]

Address the genetic test. Confirming the gene matters because it predicts how the face and the airway will behave, it guides the timing and type of surgery, and it lets the team counsel accurately about recurrence — so the test turns the plan from reactive to anticipatory. Frame the staged pathway honestly: the vault is reshaped in infancy, the forehead and orbits later, the midface in adolescence, and the airway, the eye, the brain pressure and the development are watched throughout, coordinated by a named craniofacial team. [7]

Address the online information without minimising. Name that the syndrome is variable, that the airway, eye and pressure needs are watched and managed through a structured plan, and that long-term outcome data show adults with syndromic craniosynostosis who participate in education, work and relationships; avoid deficit language, name the baby by name, and frame the conversation around the person rather than the syndrome. [8]

Close with a shared plan and a clear next appointment — the imaging, the genetic test, the ophthalmology and airway referrals, and the connection to a craniofacial team and a family support organisation — and an open invitation to return with questions. [7] [8]