VACTERL with hydrocephalus: family with X-linked VACTERL-H.
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.
Lomas
F E
FE
The John Curtin School of Medical Research, Australian National University, Canberra.
Dahlstrom
J E
JE
Ford
J H
JH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002535:Cerebral Aqueduct / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005837:Genitalia, Male / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014960:X Chromosome / Q000235:genetics*