The 3M syndrome

被引：47

作者：

Huber, Celine ^{[1
]}

Munnich, Arnold ^{[1
]}

Cormier-Daire, Valerie ^{[1
]}

机构：

[1] Paris Descartes Univ, Hop Necker Enfants Malad, INSERM, Dept Genet,U781, F-75015 Paris, France

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2011年 / 25卷 / 01期

关键词：

IUGR; post-natal growth retardation; skeletal changes; normal intelligence; CUL7; OBSL1; GROWTH-RETARDATION SYNDROME; OF-THE-LITERATURE; 3-M SYNDROME; TRANSGENIC MICE; CYCLIN-E; GENE; PROTEIN; IDENTIFICATION; DISRUPTION; DWARFISM;

D O I：

10.1016/j.beem.2010.08.015

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

3M syndrome (MIM 273750) is an autosomal recessive disorder characterized by pre- and post-natal growth retardation (<-4 SD), facial dysmorphism, large head circumference, normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. There is no specific treatment. Uptill now, mutations in either CUL7 or OBSL1 genes have been identified in this rare disorder. There are no clinical or radiological differences between patients with CUL7 or OBSL1 mutations. CUL7 appears to be the major gene responsible for 3M syndrome accounting for 77.5% of cases while OBSL1 mutations accounts for 16.3%. A few patients have no mutations in these genes suggesting the involvement of a third gene. (C) 2010 Elsevier Ltd. All rights reserved.

引用

页码：143 / 151

页数：9

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