Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance

K D MacDermot; S C Roth; C Hall; R M Winter

doi:10.1136/jmg.24.10.602

Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance

J Med Genet. 1987 Oct;24(10):602-8. doi: 10.1136/jmg.24.10.602.

Authors

K D MacDermot¹, S C Roth, C Hall, R M Winter

Affiliation

¹ Kennedy Galton Centre, Harperbury Hospital, London.

Abstract

A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adult
Aged
Bone and Bones / diagnostic imaging
Child
Child, Preschool
Chromosome Aberrations / diagnostic imaging
Chromosome Aberrations / genetics*
Chromosome Disorders
Deafness / genetics*
Female
Femur Head / abnormalities*
Genes, Dominant*
Humans
Karyotyping
Male
Myopia / genetics*
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / genetics*
Pedigree
Radiography
Spine / abnormalities*