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Article

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

European journal of medical genetics - 1 Jan 2022

Khairat Rabab, Elhossini Rasha, Sobreira Nara, Wohler Elizabeth, Otaify Ghada, Mohamed Amal M, Abdel Raouf Ehab R, Sayed Inas, Aglan Mona, Ismail Samira, Temtamy Samia A

Abstract excerpt

Carpenter syndrome 1 (CRPT1) is an acrocephalopolysyndactyly (ACPS) disorder characterized by craniosynostosis, polysyndactyly, obesity, and other malformations. It is caused by mutations in the gene RAB23. We are reporting on two patients from two unrelated consanguineous Egyptian families. Patient 1 presented with an atypical clinical presentation of Carpenter syndrome including overgrowth with advanced bone...

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PMID: 34748996
DOI: 10.1016/j.ejmg.2021.104377

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