Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel parents of a newborn with suspected syndromic craniosynostosis — OSCE
OSCE communication and shared-planning station: breaking the news of a probable syndromic craniosynostosis identified on the postnatal ward, explaining the genetic basis and the meaning of the head-face-limb fingerprint, outlining the airway-eye-pressure safety triad and the age-based staged surgical plan in plain language, and offering honest prognostic framing while addressing fear about appearance and development.
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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]
References4ShowHide
- [1]Twigg SR, Wilkie AO. New insights into craniofacial malformations. Hum Mol Genet, 2015.PMID 26085576
- [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
- [8]Sakamoto Y, Takenouchi T, Miwa T, Kishi K. Assessment of long-term quality of life in patients with syndromic craniosynostosis. J Plast Reconstr Aesthet Surg, 2021.PMID 33039308