Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
- 1 April 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (4) , 516-518
- https://doi.org/10.1002/ajmg.1320350414
Abstract
We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.Keywords
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