title: Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.
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".
authors.affiliation: University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary. emorava@yahoo.com
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Tamás
authors.initials: T
authors.lastname: Illés
authors.forename: János
authors.initials: J
authors.lastname: Weisenbach
authors.forename: Judit
authors.initials: J
authors.lastname: Kárteszi
authors.forename: György
authors.initials: G
authors.lastname: Kosztolányi
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology*; D005192:Family Health; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*