Morquio syndrome: Diagnosis in an adult

Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

“…Prat et al describe a 38-year-old woman who had marked short stature, prognathism, short trunk and neck, kyphoscoliosis, genu valgum, and pes planus. She was not diagnosed until adulthood despite a history of multiple orthopedic surgical procedures as a child, including bilateral osteotomies, C1-C2 fusion, and T12-L3 fusion, a total knee replacement, and bilateral total hip replacement (Prat et al 2008).…”

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

“…The most severe phenotypes are characterized by severe pulmonary involvement, quadriparesis, and death, usually between the second and third decade of life. In attenuated forms, a longer life expectancy has been observed [3], and clinical features may be limited to minor skeletal abnormalities and short stature [4]. In some cases, the diagnosis may be delayed as the urinary glycosaminoglycans (GAGs) may be in the normal range.…”

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders

“…3 Clinical features are similar to MPS I or Hurler syndrome, including dysostosis multiplex, which is often severe (Figure 6a). 24 Dens and ligamentous abnormalities may also occur, with complications including cord compression and atlantoaxial subluxation (Figure 6b). 16,24,25 Other similar clinical features to MPS I include cardiac valve abnormalities and obstructive respiratory disease.…”

“…24 Dens and ligamentous abnormalities may also occur, with complications including cord compression and atlantoaxial subluxation (Figure 6b). 16,24,25 Other similar clinical features to MPS I include cardiac valve abnormalities and obstructive respiratory disease. 4,12 However, MPS IV patients typically exhibit normal intelligence and a longer life span than those with MPS I.…”

“…4,12 However, MPS IV patients typically exhibit normal intelligence and a longer life span than those with MPS I. 4,24 Mucopolysaccharidosis VI: Maroteaux-Lamy syndrome MPS VI or Maroteaux-Lamy syndrome is caused by arylsulfatase-b deficiency, with abnormal accumulation of dermatan sulfate and chondroitin sulfate in cells. 2 This disorder has an autosomal recessive inheritance pattern, with an incidence ranging from 0.14/100 000 to 0.38/100 000 live births depending on the country reviewed.…”