Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

We report on three brothers with renal tubular dysgenesis and absent nipple s, each also had other malformations including preauricular pits and a prea uricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly , ventricular septal defect, type IIB interrupted aortic arch, absent gallb ladder, absent thymus, parathyroid gland, accessory spleen, imperforate anu s, clinodactyly, and broad digits and small nails, All three infants died n eonatally, This pattern of clinical malformations appears to be a previousl y unreported syndrome, Am. J. Med. Genet. 80:335-342, 1998. (C) 1998 Wiley- Liss, Inc.