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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.