Tetralogy Of Fallot Syndrome, Autosomal Recessive

Clinical Features

Lammer et al. (2001) reported a malformation pattern affecting 5 of 7 sibs born to unaffected first-cousin Afghan parents. Their first 2 children died during infancy of cyanotic congenital heart defects. Two living male sibs had tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male had communicating hydrocephalus and hypertelorism without heart disease but with moderate developmental delay and a chordee. Lammer et al. (2001) argued for autosomal recessive inheritance because of the consanguinity of the parents and the absence of any history of similarly affected males in the remainder of the pedigree. The possibility of a cryptic balanced subtelomeric translocation was suggested and seems as likely as recessive inheritance in the pedigree.