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- Publisher
- Wiley
- Copyright
- Copyright © 1987 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320270419
- pmid
- 3425602
- Publisher site
- See Article on Publisher Site
Abstract
We report on a family with X‐linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been “nonspecific” mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal OFC, but CT‐scan of the brain did not show aqueductal stenosis in any of them.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Aug 1, 1987
Keywords: hydrocephalus; mental retardation; X‐linked inheritance