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Am J Med Genet A. 2013 Oct;161A(10):2588-93. doi: 10.1002/ajmg.a.36094. Epub 2013 Aug 5.

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

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  • 1Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Abstract

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14-year-old Somali patient and her 3-year-old maternal half-brother with novel homozygous CHST3 mutations. The proband presented at the age 5½ years with short stature and genua valga. Her clinical course was characterized by rapid progression of spinal deformities and large joint contractures. Her half-brother presented at birth with bilateral knee dislocation and talipes equinovarus. This report of a Somali family with CHST3-related chondrodysplasia illustrates the intrafamilial variability in phenotypic expression of this rare disorder. © 2013 Wiley Periodicals, Inc.

Copyright © 2013 Wiley Periodicals, Inc.

KEYWORDS:

CHST3 type; Omani type; autosomal recessive Larsen syndrome; chondrodysplasia with congenital joint dislocations; intrafamilial variability of expression; spondyloepiphyseal dysplasia

PMID:
23918704
[PubMed - indexed for MEDLINE]
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