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Brachyolmia and spinal stenosis
Author(s) -
Mukamel Masza,
Karmazyn Boaz,
de Vries Liat,
Horev Gadi,
Shohat Mordechai
Publication year - 2003
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.20204
Subject(s) - short stature , dysplasia , medicine , trunk , stenosis , genetic heterogeneity , anatomy , radiology , pathology , biology , genetics , phenotype , ecology , gene
Brachyolmia is a rare short‐trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. This group of skeletal dysplasia is heterogeneous and four types have been differentiated on the basis of radiological and genetic findings. We report on two siblings with Hobaek‐type brachyolmia complicated by spinal stenosis. This combination has never been reported in the literature and suggests further genetic heterogeneity within brachyolmia. © 2003 Wiley‐Liss, Inc.