Smith-Fineman-Myers syndrome in two brothers.
作者信息
Adès L C, Kerr B, Turner G, Wise G
机构信息
Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
出版信息
Am J Med Genet. 1991 Sep 15;40(4):467-70. doi: 10.1002/ajmg.1320400419.
PMID:1684092
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.
摘要
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