title: Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
abstract: 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.
authors.affiliation: aDepartment of Orthopaedic Surgery, Myongji Hospital, Kyungki bDepartment of Bioinformatics, Korea University of Science and Technology cKorean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon dDivision of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Ki Hyuk
authors.initials: KH
authors.lastname: Sung
authors.forename: Sang-Heon
authors.initials: SH
authors.lastname: Lee
authors.forename: Namshin
authors.initials: N
authors.lastname: Kim
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*; D035781:Siblings; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C539275:CHRNG protein, human; D011978:Receptors, Nicotinic