GELEOPHYSIC DYSPLASIA - A REPORT OF 3 AFFECTED BOYS - PRENATAL ULTRASOUND DOES NOT DETECT RECURRENCE

Geleophysic dysplasia is characterized by short stature with short lim bs and brachydactyly, a ''happy'' facial appearance, and joint contrac tures. In-filtration of heart valves and liver with a mucopolysacchari de-like substance has been demonstrated in some patients. A metabolic pathogenesis is suspected, but has not yet been identified. We report on 3 boys with the condition, 2 of whom are brothers. Serial ultrasoun d scans were performed on 2 of the cases during pregnancy, but short l imbs did not become obvious until after 28 weeks of gestation, making it an uninformative procedure for prenatal diagnosis. (C) 1995 Wiley-L iss, Inc.