Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Éva Morava, Tamás Illés, János Weisenbach, Judit Kárteszi, György Kosztolányi

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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".

Original languageEnglish
Pages (from-to)272-277
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume116
Issue number3
DOIs
Publication statusPublished - Jan 2003

Keywords

  • Autosomal dominant
  • Fronto-metaphyseal dysplasia
  • Fronto-otopalatodigital osteodyplasia
  • Scoliosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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