Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
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.
MacDermot
K D
KD
Kennedy Galton Centre, Harperbury Hospital, London.
Roth
S C
SC
Hall
C
C
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000235:genetics*; D005260:Female; D005270:Femur Head / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D008297:Male; D009216:Myopia / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013131:Spine / Q000002:abnormalities*