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

Am J Med Genet. 1998 Feb 26;76(1):74-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<74::aid-ajmg14>;2-m.


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.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics
  • Cerebral Aqueduct / abnormalities
  • Female
  • Genetic Linkage*
  • Genitalia, Male / abnormalities
  • Heart Defects, Congenital / genetics
  • Humans
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / genetics*
  • Kidney / abnormalities
  • Male
  • Pedigree
  • Pregnancy
  • Radius / abnormalities
  • Syndrome
  • Ultrasonography, Prenatal
  • X Chromosome / genetics*