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Skeletal complications in mucopolysaccharidosis VI patients: Case reports

Issue title: Promoting Bone Health in MPS VI (Maroteaux-Lamy Syndrome): Framing New Therapies, Part 1

Article type: Research Article

Authors: Garcia, Paula | Sousa, Sérgio B. | Ling, Tah Pu | Conceição, Mário | Seabra, Jorge | White, Klane K. | Diogo, Luisa

Affiliations: Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra, Coimbra, Portugal | Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal | Serviço de Ortopedia, Hospital Pediátrico de Coimbra, Coimbra, Portugal | Children's Hospital and Regional Medical Center, Department of Orthopedic Surgery, Seattle, WA, USA

Note: [] Address for correspondence: Paula Garcia, Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra, Coimbra, Portugal. Tel.: +351 239480606; Fax: +351 717116; E-mail: pg@chc.min-saude.pt

Keywords: Bone, mucopolysaccharidosis VI, orthopedics, skeleton

DOI: 10.3233/PRM-2010-0108

Journal: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 63-69, 2010

Received 21 January 2010
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Accepted 21 January 2010
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Published: 2010
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Abstract

Mucopolysaccharidosis (MPS) VI is an inheritable lysosomal storage disorder that is often associated with severe orthopedic problems such as hip dysplasia, spinal deformities, and deformities in the skull, knees and hands. We describe the progression and management of three MPS VI cases with focus on their orthopedic problems.

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