Frontometaphyseal Dysplasia. Evidence for dominant inheritance.
A 10-year-old boy with mixed bilateral hearing loss and unusual facies was found to have frontometaphyseal dysplasia. He has prominent supraorbital ridges, height-span disproportion, dental abnormalities, thick clavicles, pectus excavatum, winged scapulae, joint contractures, and generalized muscular underdevelopment. Roentgenograms show supraorbital hyperostosis, antegonial notching of the mandible, flared ilia, contraction of the midpelvis, flattened vertebrae, deformities of the ribs posteriorly, flared metaphyses of the long tubular bones, and greatly widened and elongated metacarpals, metatarsals, and phalanges. His mother has prominent supraorbital ridges, distinct scoliosis, contractures of the fifth fingers, and conductive hearing loss. She also has many of the roentgenographic features of frontometaphyseal dysplasia. Frontometaphyseal dysplasia in a mother and son strongly suggests a dominant mode of inheritance.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D003638:Deafness / Q000235:genetics; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging