Fallot Complex With Severe Mental And Growth Retardation

Bindewald et al. (1994) described an apparently novel autosomal recessive syndrome in 3 brothers and a sister in a Pakistani family with first-cousin parents. Cardiac anomalies, either classic tetralogy of Fallot or double-outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis, were found in 3 of the 4. One of the sibs had only noncardiac manifestations, namely minor facial anomalies, pronounced failure to thrive, and mental retardation. Bindewald et al. (1994) could not exclude the possibility of 2 separate autosomal recessive mutations in this sibship. Tetralogy of Fallot has been observed in association with a number of syndromes and as an isolated familial occurrence. See, for example, hypertelorism and tetralogy of Fallot (239711).

Belengeanu et al. (2005) reported a 4-year-old Romanian boy with a constellation of symptoms consistent with the cases described by Bindewald et al. (1994): tetralogy of Fallot, severe growth and mental retardation, large ears, syndactyly of toes, and cryptorchidism. The child was in foster care, and information on his parents was unavailable.