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Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene

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Escobar syndrome is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, facial dysmorphism and a variety of other congenital anomalies. We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene.
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Keywords: CHRNG gene; Escobar syndrome; multiple pterygium syndrome; treatment outcome

Document Type: Miscellaneous

Affiliations: 1: Department of Orthopaedic Surgery, Myongji Hospital, Kyungki 2: Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Korea

Publication date: May 1, 2015

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