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 nipples, each also had other malformations including pre-auricular pits and a preauricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly, ventricular septal defect, type IIB interrupted aortic arch, absent gallbladder, absent thymus, parathyroid gland, accessory spleen, imperforate anus, clinodactyly, and broad digits and small nails. All three infants died neonatally. This pattern of clinical malformations appears to be a previously unreported syndrome.
Hisama
F M
FM
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8018, USA. hisama@biomed.med.yale.edu
Reyes-Mugica
M
M
Wargowski
D S
DS
Thompson
K J
KJ
Mahoney
M J
MJ
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007684:Kidney Tubules / Q000002:abnormalities*; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome