Two sibs with fibrochondrogenesis | Zendy

Leeners Brigitte | Zendy; Funk Andreas | Zendy; Cotarelo Christina L. | Zendy; Sauer Itta | Zendy

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Two sibs with fibrochondrogenesis

Author(s) -

Leeners Brigitte,

Funk Andreas,

Cotarelo Christina L.,

Sauer Itta

Publication year - 2004

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.20620

Subject(s) - pathological , autosomal recessive inheritance , incidence (geometry) , inheritance (genetic algorithm) , medicine , radiological weapon , genetic disorder , genetics , pediatrics , pathology , biology , surgery , disease , gene , physics , optics

Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1–3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni‐Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis. © 2004 Wiley‐Liss, Inc.

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