VACTERL with hydrocephalus: Family with X-linked VACTERL-H

Abstract

We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac abnormalities (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 female carrier. Chromosomes were apparently normal (46XY) with no spontaneous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in utero detection of this syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined. Am. J. Med. Genet. 76:74–78, 1998.