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- W2894793816 abstract "Background and Significance: Apert syndrome is a congenital disorder of patients who typically present with bilateral coronal craniosynostosis and varying degrees of complex syndactyly of the hands and feet, among other features. We describe a unique presentation of a rare Apert-like patient with unilateral coronal craniosynostosis and complex syndactyly of the hands and feet. Case Report: A 2-year-old male patient presented to the craniofacial clinic with his mother due to a concerning head shape. The patient also had bilateral syndactyly of the hands and feet and underwent prior surgical release of the third web space. Computerized tomography of the head illustrated a small open anterior fontanelle, a left harlequin orbit, complete left coronal craniosynostosis, and a patent right coronal suture. The patient subsequently underwent fronto-orbital advancement for expansion of the cranial vault and correction of the asymmetric forehead and orbit. The procedure resulted in improvement of his deformity. Conclusion: This case illustrates a unique presentation of an acrocephalosyndactyly (ACS) syndrome with asymmetric, unilateral coronal craniosynostosis and complete complex syndactyly of the hands and feet that is most consistent with Apert syndrome. Although the majority of patients with ACS can be categorized into known syndromes, other more unusual presentations must still be considered. Such unique cases are exceedingly rare and only through additional reporting and review of unique phenotypes can new subtypes of common ACS syndromes be classified." @default.
- W2894793816 created "2018-10-12" @default.
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- W2894793816 date "2018-10-03" @default.
- W2894793816 modified "2023-09-27" @default.
- W2894793816 title "Unilateral Coronal Craniosynostosis in an Apert-Like Patient" @default.
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- W2894793816 doi "https://doi.org/10.1177/2292550318800322" @default.
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