Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy | Zendy

Isidor Bertrand | Zendy; Baron Sabine | Zendy; Khau van Kien Philippe | Zendy; Bertrand AnneMarie | Zendy; David Albert | Zendy; Le Merrer Martine | Zendy

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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.

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