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

Ki Hyuk Sung; Sang-Heon Lee; Namshin Kim; Tae-Joon Cho

doi:10.1097/BPB.0000000000000119

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

J Pediatr Orthop B. 2015 May;24(3):262-7. doi: 10.1097/BPB.0000000000000119.

Authors

Ki Hyuk Sung¹, Sang-Heon Lee, Namshin Kim, Tae-Joon Cho

Affiliation

¹ 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.

PMID: 25411939
DOI: 10.1097/BPB.0000000000000119

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics*
Adolescent
Female
Homozygote*
Humans
Male
Malignant Hyperthermia / diagnosis*
Malignant Hyperthermia / genetics*
Mutation / genetics*
Receptors, Nicotinic / genetics*
Siblings*
Skin Abnormalities / diagnosis*
Skin Abnormalities / genetics*
Treatment Outcome

Substances

CHRNG protein, human
Receptors, Nicotinic

Supplementary concepts

Multiple pterygium syndrome