Autosomal dominant transmission of ureteral triplication and bilateral amastia.
We report a case of ureteral triplication as part of an autosomal dominant syndrome comprising bilateral amastia, pectus excavatum, umbilical hernia, patent ductus arteriosus, dysmorphic low set ears, ptosis, epicanthic folds with an antimongoloid slant to the eyes, hypertelorism, high arched palate, flat broad nasal bridge, tapered digits, cubitus valgus and syndactyly.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001940:Breast / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014513:Ureter / Q000002:abnormalities*