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

✍ Scribed by Lomas, Fred E.; Dahlstrom, Jane E.; Ford, Judith H.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 34 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980226)76:1<74::aid-ajmg14>3.0.co;2-m

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✦ Synopsis

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.

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