An X‐linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot
- 1 January 1984
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 17 (1) , 375-382
- https://doi.org/10.1002/ajmg.1320170131
Abstract
A male infant, who died of renal insufficiency at 6 months, had 2 similarly affected maternal uncles who died at 16 and 6 months respectively. Their manifestations include microcephaly, a large anterior fontanel, short nose with anteverted nostrils, club foot deformity, retarded psychomotor development and, in the index case only, kidney hypoplasia and dysplasia. The 2 obligatory carriers of this evidently X‐linked recessive syndrome had no physical abnormalities.Keywords
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