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Title 

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

Authors 

K H SungSang Heon LeeNamshin KimT J Cho

Publisher 

Lippincott, Williams & Wilkins

Issue Date 

2015

Citation 

Journal of Pediatric Orthopaedics B, vol. 24, no. 3, pp. 262-267

Keywords 

CHRNG geneEscobar syndromeMultiple pterygium syndromeTreatment outcome

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.

ISSN 

1060-152X

Link 

http://dx.doi.org/10.1097/BPB.0000000000000119

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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