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Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
- Source :
- Journal of Investigative Medicine High Impact Case Reports, Journal of Investigative Medicine High Impact Case Reports, Vol 7 (2019)
- Publication Year :
- 2019
- Publisher :
- SAGE Publications, 2019.
-
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.
- Subjects :
- Adult
Lung Diseases
Male
Pediatrics
medicine.medical_specialty
Epidemiology
restrictive lung disease
Case Report
030204 cardiovascular system & hematology
Ribosomal Protein S6 Kinases, 90-kDa
mental retardation
03 medical and health sciences
0302 clinical medicine
kyphoscoliosis
Coffin-Lowry Syndrome
medicine
lcsh:Pathology
Humans
Abnormalities, Multiple
Restrictive lung disease
Safety, Risk, Reliability and Quality
Kyphoscoliosis
Coffin-Lowry
Paraplegia
Coffin–Lowry syndrome
lcsh:R5-920
business.industry
medicine.disease
Phenotype
Scoliosis
030220 oncology & carcinogenesis
Cobb’s angle
Radiography, Thoracic
Tomography, X-Ray Computed
business
lcsh:Medicine (General)
Safety Research
lcsh:RB1-214
Subjects
Details
- Language :
- English
- ISSN :
- 23247096
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Journal of Investigative Medicine High Impact Case Reports
- Accession number :
- edsair.doi.dedup.....1a92049a8839c4941f02125deccf110f