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Autosomal dominant inheritance of spondyloenchondrodysplasia

✍ Scribed by R. Bhargava; N.J. Leonard; A.K.J. Chan; J. Spranger

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 248 KB
Volume: 135A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30732

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✦ Synopsis

Abstract

Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed. © 2005 Wiley‐Liss, Inc.

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