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Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
Author(s) -
Isidor Bertrand,
Baron Sabine,
Khau van Kien Philippe,
Bertrand AnneMarie,
David Albert,
Le Merrer Martine
Publication year - 2010
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.33397
Subject(s) - retinitis pigmentosa , consanguinity , short stature , autosomal recessive inheritance , dysplasia , medicine , dystrophy , ophthalmology , pediatrics , retinal , pathology , genetics , biology , gene
This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pediatr 156:627–630] described as axial spondylometaphyseal dysplasia. The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity. © 2010 Wiley‐Liss, Inc.