A familial disorder with duodenal atresia and tetralogy of Fallot

✍ Scribed by Lemire, Edmond G.; Evans, Jane A.; Giddins, Niels G.; Harman, Christopher R.; Wiseman, Nathan E.; Chudley, Albert E.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 657 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961202)66:1<39::aid-ajmg9>3.0.co;2-r

✦ Synopsis

We report on two sibs with tetralogy of Fallot (TOF) and duodenal atresia (DA). The first child, a 6-year-old girl, had a right facial palsy in addition to the TOF and DA. Her brother, age 10 months, was born with bilateral microtia without facial palsy. The children are the product of an apparently nonconsanguineous union between clinically normal parents. The pertinent family history includes a paternal aunt with TOF and a cleft lip and palate who died in childhood and another paternal aunt with a supernumerary thumb. This family has anomalies found in several syndromes, but does not meet the diagnostic criteria for any of them. The genetic basis for this condition remains unknown, but the pattern of inheritance is likely either autosomal recessive, or autoso-ma1 dominant with variable expression and reduced penetrance. The pathogenesis is unknown, but either a disturbance in neural crest cell migration or familial predisposition to vascular disruption might explain this pattern of malformations.