Spondyloepiphyseal Dysplasia, Macdermot Type

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.

Epidemiology

The syndrome has been described in a family in which females in four successive generations were affected.

Clinical description

Myopia and retinal detachment were present in adult life.

Genetic counseling

Autosomal dominant transmission has been suggested.