An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of fallot
- 31 August 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 22 (1) , 135-141
- https://doi.org/10.1002/ajmg.1320220115
Abstract
This report describes six relatives with a syndrome of mild prenatal‐onset growth deficiency, an altered craniofacial appearance, preauricular pits, and clinodactyly of the fifth finger; three had tetralogy of Fallot. The clinical impact of this condition appears to be related to the severity of the cardiac defect. Autosomal dominant inheritance is implied by the occurence of the disorder in three successive generations with documented male‐to‐male transmission. Recognition of this syndrome is important in counseling families regarding recurrence risk for tetralogy of Fallot.Keywords
This publication has 4 references indexed in Scilit:
- Conotruncal Malformation Complex: Examples of Possible Monogenic InheritancePediatrics, 1979
- A family study of Fallot's tetralogy.Journal of Medical Genetics, 1972
- Genetics of Fallot's tetralogy.Heart, 1971
- A FAMILY STUDY OF FALLOT'S TETRADAustralasian Annals of Medicine, 1962