Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene
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.
No Reference information available - sign in for access.
No Citation information available - sign in for access.
No Supplementary Data.
No Article Media
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