TY - CHAP M1 - Book, Section TI - Morquio Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is an inborn error of metabolism characterized by the deficiency of one of 10 specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. It exists in two forms: Morquio Syndromes A and B are caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase and β-galactosidase, respectively. It may be detected as early as 18 months to 2 years. The skeletal abnormalities may include macrocephaly, a broad mouth, prominent cheekbones, an unusually small nose, short necks, short barrel chests, disproportionately long arms, enlarged and possibly hyperextensible wrists, stubby hands, and “knock knees.” The joint laxity and bony abnormalities of the spine can result in life-threatening spinal cord compression. The presence of a thoracic kyphoscoliosis may contribute to spinal cord ischemia risk during positioning. Aortic regurgitation and deafness have been reported. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164079251 ER -