| Literature DB >> 22245826 |
Ali Bülent Baz1, Serdar Akalin, Hasan Arik, Ali Ergün.
Abstract
Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth. Morquio-specific radiographic changes can be observed prior to clinical signs and symptoms. Patients are usually affected by a severe joint degeneration from the 2nd or 3rd decade. Hyperlaxity of the joints is prominent due to the excess of intermediate metabolites. We report a patient with inherited dwarfism, in which a proximal soft tissue realignment procedure was performed to treat chronic patellar dislocation.Entities:
Mesh:
Year: 2011 PMID: 22245826 DOI: 10.3944/AOTT.2011.2446
Source DB: PubMed Journal: Acta Orthop Traumatol Turc ISSN: 1017-995X Impact factor: 1.511