New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria
- 15 April 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (1-2) , 452-457
- https://doi.org/10.1002/ajmg.1320430168
Abstract
A previously unreported X‐linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X‐linked dominant trait with decreased penetrance and expressivity in carrier females.Keywords
This publication has 2 references indexed in Scilit:
- XLMR genes: Update 1990American Journal of Medical Genetics, 1991
- FG syndrome update 1988: Note of 5 new patients and bibliographyAmerican Journal of Medical Genetics, 1988