FANCONI-ANEMIA IN BROTHERS INITIALLY DIAGNOSED WITH VACTERL ASSOCIATION WITH HYDROCEPHALUS, AND SUBSEQUENTLY WITH BALLER-GEROLD SYNDROME

Two brothers with presumed Baller-Gerold syndrome, one of whom was pre viously diagnosed with the association of vertebral, cardiac, renal, l imb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) asso ciation with hydrocephalus, were evaluated for chromosome breakage bec ause of severe thrombo cytopenia in one of them. Spontaneous and clast ogen-induced breakage was markedly increased in both patients as compa red to control individuals, Clinical manifestations and chromosome bre akage, consistent with Fanconi anemia, in patients with a prior diagno sis of either Baller-Gerold syndrome, reported earlier in one other pa tient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with hydrocephalus, recently reported in 3 patients [Tori ello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogene ity of Fanconi anemia and raise the question of whether these syndrome s are distinct disorders or phenotypic variations of the same disease. (C) 1996 Wiley-Liss, Inc.