Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome

被引：0

作者：

Venter, Frederick ^{[1
]}

Evans, Andrew ^{[1
]}

Fontes, Claudia ^{[1
]}

Stewart, Carol ^{[2
]}

机构：

[1] Kern Med Ctr, 1700 Mt Vernon Ave, Bakersfield, CA 93305 USA

[2] Rio Bravo Family Med Residency Program, Bakersfield, CA USA

来源：

JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS | 2019年 / 7卷

关键词：

Coffin-Lowry; restrictive lung disease; mental retardation; kyphoscoliosis; Cobb's angle; MENTAL-RETARDATION; MUTATIONS; RPS6KA3;

D O I：

10.1177/2324709618820660

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.

引用

页数：3

共 48 条

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