VACTERL WITH HYDROCEPHALUS AND BRANCHIAL ARCH DEFECTS - PRENATAL, CLINICAL, AND AUTOPSY FINDINGS IN 2 BROTHERS

VACTERL association is defined as a combination of vertebral, anal, ca rdiac, tracheoesophageal, renal and limb anomalies, in particular radi al defects, In recent years hydrocephalus was observed in patients wit h apparent VACTERL association. This particular condition was recogniz ed as a hereditary entity with poor prognosis. Both autosomal recessiv e and X-linked forms were described. Here we report prenatal, clinical and autopsy findings in 2 brothers with this syndrome, who had, in ad dition, branchial arch anomalies. The recurrence in this family sugges ts X-linked inheritance. Branchial arch defects have so far not been d escribed as part of the VACTERL + H syndrome. This observation further supports that a variety of brain anomalies including hydrocephalus as sociated with VACTERL anomalies represents separate entities with a co nsiderable recurrence risk, The use of the term VACTERL ''association' ' for these conditions is misleading and is discouraged. (C) 1996 Wile y-Liss, Inc.