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Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families
Author(s) -
Morava Éva,
Illés Tamás,
Weisenbach János,
Kárteszi Judit,
Kosztolányi György
Publication year - 2002
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.10831
Subject(s) - scoliosis , dysplasia , medicine , genetic heterogeneity , osteochondrodysplasia , hyperostosis , anatomy , pathology , genetics , biology , surgery , phenotype , gene
Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X‐linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra‐ and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick‐Needles osteodysplasty, an X‐linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity “fronto‐otopalatodigital‐osteodysplasty syndome”. © 2002 Wiley‐Liss, Inc.