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Spondylo‐mega‐epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness
Author(s) -
Agarwal Vishal K.,
Lachman Ralph S.,
Rimoin David L.,
Wilcox William R.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30805
Subject(s) - medicine , mega , dysplasia , anatomy , pathology , physics , astronomy
We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), mega‐epiphyses, platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss. We compare this case to the other reported forms of skeletal dysplasias, particularly the mesomelic, acromesomelic, and mega‐epiphyseal disorders. © 2005 Wiley‐Liss, Inc.