Frontometaphyseal Dysplasia. Evidence for dominant inheritance
L. Weiss, W. A. Reynolds and R. T. Szymanowski
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.
