Musculoskeletal anomalies were the primary
findings and included dysplastic vertebrae with midcoronal clefts, shortened
humeri with distal bifurcation, subluxated elbow and knee joints, shortened
and hypotubular long bones of the lower extremities that were often bowed,
widened iliac bones, and talipes equinovarus. Range of motion of affected
joints was limited. Scoliosis developed in one patient. All three patients
had murmurs and two had cardiomegaly on the chest radiograph. Tricuspid
regurgitation and pulmonary hypertension were diagnosed by cardiac
catheterization in the second half-sibling at age 2 years. Both
half-siblings, who died at ages of 7 months and 8 years, respectively, were found to have
thickened and stenotic mitral and tricuspid valves, right atrial and
ventricular hypertrophy with dilatation and endocardial fibrosis on
autopsy. The pulmonic and aortic valves were only mildly affected.