SMITH-FINEMAN-MYERS SYNDROME IN 2 BROTHERS

被引：15

作者：

ADES, LC ^{[1
]}

KERR, B ^{[1
]}

TURNER, G ^{[1
]}

WISE, G ^{[1
]}

机构：

[1] PRINCE WALES CHILDRENS HOSP,DEPT NEUROL,RANDWICK,NSW 2031,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期

关键词：

X-LINKED INHERITANCE; DISTINCTIVE FACIAL APPEARANCE; SEVERE MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320400419

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：467 / 470

页数：4

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