A 16-year-old Girl with Morquio Syndrome: A Case Report
Autor: | Mohammad Tanvir Islam, Maftahul Jannat, Akm Motiur Rahman Bhuiyan, Amit Roy Chowdhury, Zilan Miah Sarker |
---|---|
Rok vydání: | 2018 |
Předmět: | |
Zdroj: | BIRDEM Medical Journal. 8:266-269 |
ISSN: | 2305-3720 2305-3712 |
DOI: | 10.3329/birdem.v8i3.38137 |
Popis: | Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The patient had short stature and skeletal deformity and she belonged to a non-consanguineous marriage of her parents. She was diagnosed on the basis of clinical features, typical radiological changes and positive urinary mucopolysaccharide screening test.Birdem Med J 2018; 8(3): 266-269 |
Databáze: | OpenAIRE |
Externí odkaz: |