Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome.

We report on a 4-year-old boy with a multiple congenital anomaly syndrome comprising symmetric carpometacarpal and tarsometatarsal synostoses and moderate acromesomelia. Because both the anatomy and function in elbows, knees, and ankles were adversely affected, mobility in the upper limbs and gait were seriously impaired. Other important components of the syndrome included eyelid plosis, hypoplastic soft palate and uvula, atrial septal defect, ventricular septal defect, coarctation of the aorta, and bilateral hydronephrosis due to congenital vesicoureteral junction stenosis. The stature was in the low normal range and the mental development normal. Only two observations of a similar set of malformations previously have been reported. This pleiotropic syndrome, most probably an autosomal dominant trait, is apparently the phenotypic result of a single gene mutation disturbing antenatal pattern formation, more specifically distal limb segmentation and joint differentiation.