Total: 2 |
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PMID (PMCID) | ||
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17486625 |
FEMALE | Infant |
Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts. | ||
Horvath GA, Armstrong L. Am J Med Genet A. 2007;143A(11):1231-5. |
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Variably present features were choanal atresia, preauricular tags and pits, branchial clefts, ventricular septal defect, type IIB interrupted aortic arch, pulmonary lobation anomaly, absent gallbladder, absent thymus, absent parathyroid gland, accessory spleen, and imperforate anus. | ||
9856560 |
MIXED_SAMPLE | Adult |
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. | ||
Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ. Am J Med Genet. 1998;80(4):335-42. |
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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. |