VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers

Am J Med Genet. 1996 Mar 15;62(2):169-72. doi: 10.1002/(SICI)1096-8628(19960315)62:2<169::AID-AJMG10>3.0.CO;2-M.


VACTERL association is defined as a combination of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies, in particular radial defects. In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as a hereditary entity with poor prognosis. Both autosomal recessive and X-linked forms were described. Here we report prenatal, clinical and autopsy findings in 2 brothers with this syndrome, who had, in addition, branchial arch anomalies. The recurrence in this family suggests X-linked inheritance. Branchial arch defects have so far not been described as part of the VACTERL+H syndrome. This observation further supports that a variety of brain anomalies including hydrocephalus associated with VACTERL anomalies represents separate entities with a considerable recurrence risk. The use of the term VACTERL "association" for these conditions is misleading and is discouraged.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / physiopathology*
  • Brain / pathology
  • Branchial Region / abnormalities*
  • Fatal Outcome
  • Female
  • Humans
  • Hydrocephalus / physiopathology*
  • Male
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*