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Reports syndromic Fallot complex and developmental delays in siblings of consanguineous parents, suggesting a novel autosomal recessive disorder.
We report on the syndromic occurrence of the Fallot complex in sibs born to consanguineous Pakistani parents. Additional manifestations included minor facial anomalies, pronounced failure to thrive, and mental retardation. Expression of the syndrome varied. While one of the four patients had cardiac malformations, another sib had only non-cardiac manifestations. The clinical findings suggest a new autosomal recessive syndrome.
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Bindewald et al. (1994) studied this question.
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