Dyschondrosteosis-Nephritis Syndrome

Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.

Epidemiology

It was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1.

Clinical description

The skeletal anomalies closely resembled those of Léri-Weill dyschondrosteosis (see this term).

Genetic counseling

The mode of transmission was reported as autosomal dominant.