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Article

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

26 Feb 1998

Abstract excerpt

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...

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Identifiers

PMID: 9508070
DOI: 10.1002/(sici)1096-8628(19980226)76:1<74::aid-ajmg14>3.0.co;2-m

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