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Smith-Fineman-Myers syndrome in two brothers
1Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
American Journal of Medical Genetics
|September 15, 1991
Abstract:
We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.