VACTERL WITH HYDROCEPHALUS - FAMILY WITH X-LINKED VACTERL-H

We describe in a five generation family four affected males with hydro cephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), sy mmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac ab normalities (1/3). X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. In addition, one maternal female cousin had a severe tracheo -esophageal fistula. This may represent partial manifestation in a fem ale carrier. Chromosomes were apparently normal (46XY) with no spontan eous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonogr aphy is the investigation of choice for early in utero detection of th is syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined. (C) 1998 Wiley-Liss, Inc.