Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome
✍ Scribed by Hisama, Fuki M.; Reyes-Mugica, Miguel; Wargowski, David S.; Thompson, Kate J.; Mahoney, Maurice J.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 47 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
We report on three brothers with renal tubular dysgenesis and absent nipples, each also had other malformations including preauricular 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. Am.