A new case of Myhre syndrome

被引:23
作者
Whiteford, ML [1 ]
Doig, WB
Raine, PAM
Hollman, AS
Tolmie, JL
机构
[1] Duncan Guthrie Inst Med Genet, Yorkhill NHS Trust, Glasgow G3 8SJ, Lanark, Scotland
[2] Royal Hosp Sick Children, Yorkhill NHS Trust, Glasgow G3 8SJ, Lanark, Scotland
关键词
cardiac defect; mental retardation; Myhre syndrome; short stature;
D O I
10.1097/00019605-200104000-00011
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学]; 090102 [作物遗传育种];
摘要
Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review of the clinical features of this syndrome.
引用
收藏
页码:135 / 140
页数:6
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