Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene
Cited 2 time in
- 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
- Files in This Item:
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