An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot.
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 occurrence 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013771:Tetralogy of Fallot / Q000235:genetics*