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