Shunji Tomatsu, William G Mackenzie, Mary C Theroux, Robert W Mason, Mihir M Thacker, Thomas H Shaffer, Adriana M Montaño, Daniel Rowan, William Sly, Carlos J Alméciga-Díaz, Luis A Barrera, Yasutsugu Chinen, Eriko Yasuda, Kristen Ruhnke, Yasuyuki Suzuki, Tadao Orii
Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, faring of the rib cage, marked short stature, cervical instability and stenosis, kyphoscoliosis, genu valgum, and laxity of joints. Generally, MPS IVA patients are wheelchair-bound as teenagers and do not survive beyond the second or third decade of life as a result of severe bone dysplasia, causing restrictive lung disease and airway narrowing, increasing potential for pneumonia and apnea; stenosis and instability of the upper cervical region; high risk during anesthesia administration due to narrowed airway as well as thoracoabdominal dysfunction; and surgical complications...
December 2012: Research and Reports in Endocrine Disorders