PT  - JOURNAL ARTICLE
AU  - K D MacDermot
AU  - S C Roth
AU  - C Hall
AU  - R M Winter
TI  - Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
AID  - 10.1136/jmg.24.10.602
DP  - 1987 Oct 01
TA  - Journal of Medical Genetics
PG  - 602--608
VI  - 24
IP  - 10
4099  - http://jmg.bmj.com/content/24/10/602.short
4100  - http://jmg.bmj.com/content/24/10/602.full
SO  - J Med Genet1987 Oct 01; 24
AB  - 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.