Case 17-1985
- 25 April 1985
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 312 (17), 1111-1119
- https://doi.org/10.1056/nejm198504253121707
Abstract
Presentation of CaseA 13-year-old boy was admitted to the hospital because of proteinuria and hypertension.The child was born of a pregnancy that was complicated during the first trimester by maternal asthma, treated with theophylline, ephedrine, and phenobarbital. Delivery was spontaneous at 41 weeks, and the birth weight was 3.7 kg. In early infancy the child was found to have bilateral aniridia, glaucoma, and cataracts. His karyotype was 46,XY with an 8/11 chromosomal translocation and an interstitial deletion of the short arm of chromosome number 11. Both parents had normal karyotypes. Bilateral goniotomy was performed. At the age of . . .Keywords
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