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

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Title
Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene
Author(s)
K H Sung; Sang Heon Lee; Namshin Kim; T J Cho
Bibliographic Citation
Journal of Pediatric Orthopaedics-Part B, vol. 24, no. 3, pp. 262-267
Publication Year
2015
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.
Keyword
CHRNG geneEscobar syndromeMultiple pterygium syndromeTreatment outcome
ISSN
1060-152X
Publisher
Kluwer
DOI
http://dx.doi.org/10.1097/BPB.0000000000000119
Type
Article
Appears in Collections:
1. Journal Articles > Journal Articles
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