Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome. (January 2019)

• Record Type: Journal Article
• Authors: Venter, Frederick; Evans, Andrew; Fontes, Claudia; Stewart, Carol
• Is Part Of: Journal of investigative medicine high impact case reports. Volume 7(2019)
• Publication Date: 2019-01
• Subjects: Coffin-Lowry -- restrictive lung disease -- mental retardation -- kyphoscoliosis -- Cobb's angle; Internal medicine -- Periodicals; Medical care -- Periodicals; 616.005
• DOI: 10.1177/2324709618820660
• Languages: English
• ISSNs: 2324-7096

Abstract

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.