Disproportionate Short Stature With Ptosis And Valvular Heart Lesions

Collins et al. (1990) described a mother and 2 daughters with severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high-arched palate, and crowded dentition. The mother had pulmonary valve stenosis diagnosed in infancy. In their teens, the daughters were shown to have pulmonary valve stenosis; in one of them, echocardiogram showed thickening and collapse of the mitral valve as well.