Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome
- 1 January 1986
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 23 (1-2) , 207-211
- https://doi.org/10.1002/ajmg.1320230115
Abstract
A 14‐month‐old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.Keywords
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