Summary
Genetic heterogeneity of the Morquio syndrome has been known since deficiency of β-galactosidase was detected in some patients in addition to the deficiency of N-acetylgalactosamine-6-sulphate sulphatase in the classical form of Morquio syndrome. The clinical findings of 11 patients with MPS IVA, the classical form, and 2 patients with MPS IV B, a variant form, are described. All of the patients with MPS IV A showed extraskeletal manifestations of their disease. The patients with MPS IV B seem to be less severely affected.
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Arbisser AI, Donnelly KA, Scott CJ, DiFerrante N Singh J, Stevenson RE, Aylesworth AS, Howell RR (1977) Morquio-like syndrome with beta galactosidase deficiency. Am J Med Gen 1:195–205
Blaw ME, Langer LO (1969) Spinal cord compression in Morquio-Brailsford's disease. J Pediatr 74:4 593–600
DiFerrante N, Ginsberg LC, Donnelly PV, DiFerrante DT (1978) Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatase are responsible for different mucopolysaccharidoses. Science 199:79–81
Garn SM, Hurme VO (1952) Dental defects in three siblings afflicted with Morquio's disease. Br Dent J 93:210–212
Glössl J, Kresse H (1978) A sensitive procedure for the diagnosis of Nacetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio disease. Clin Chim Acta 88:111–119
Goidanich JF, Lenzi L (1964) Morquio-Ullrich disease. A new mucopolysaccharidosis. J Bone Jt Surg 46:734–746
Greaves MW, Inman PM (1969) Cutaneous changes in the Morquio syndrome. Br J Derm 81:29–36
Gröbe H, Lengerke HJ von, Krins M, Schmidberger M, Figura K von, Harzer K, Kresse H, Paschke E, Sewell A, Ullrich K (1981) Morquio syndrome/mucopolysaccharidosis IV B associated with β-galactosidase deficiency. Report of two cases. Am J Hum Genet (in press)
Hollister DW, Cohen AH, Rimoin DL, Silberg R (1975) The Morquio syndrome (mucopolysaccharidosis IV): morphologic and biochemical studies. Johns Hopkins Med J 37:176–183
Jenkins P, Davies GR, Harper PS (1973) Morqio Brailsford disease. A report of four affected sisters with absence of excessive keratan sulfate in the urine. Br J Radiol 46:668–675
Knight AM (1965) Chondro-osteo-dystrophy. Morquio Brailsford syndrome in a 40-year-old negro male. JMA Georgia 54:243–246
Langer LO, Carey LS (1966) The roentgenographie features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease). Am J Roentgenol Radium Ther Nucl Med 97:1–20
Lenz W (1964) Ahomalie des Wachstums und der Körperform. In: Becker PE (ed) Humangenetik. Ein kurzes Handbuch in 5 Bänden. Thieme, Stuttgart, pp 63–112
Lipson SJ (1977) Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis. J Bone Join Surg 59:340–344
Longdon K, Pennock CA (1979) Abnormal keratan sulphate excretion. Ann Clin Biochem 16:152–154
Maroteaux P, Lamy M, Foucher M (1963) La maladie de Morquio. Etude clinique, radiologique et biologique. Presse Med 71:2091–2094
McKusick VA (1979) The mucopolysaccharidoses. In: Heritable disorders of connective tissue. St. Louis. Mosby, pp 521–686
McKusick VA, Neufeld EF, Kelly TE (1978) The mucopolysaccharide storage diseases. In: Stanbury JB, Wyngaarden JB, Frederickson DS (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 1282–1307
Morquio L (1935) Sur une forme de dystrophic osseuse familiale. Arch Med Enf 38:5–24
O'Brien J, Gugler E, Giedion A, Wiessmann U, Herschkowitz N (1976) Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency. Clin Genet 9:495–504
Rampini SU (1976) Klinik der Mukopolysaccharidosen. Bücherei des Pädiaters. Beihefte zur Zeitschrift “Klinische Pädiatrie”. Herausgegeben von ed O Vivell und W. Burmeister. Enke, Stuttgart, Heft 74
Robins MM, Stevens HF, Linker A (1963) Morquio's disease: an abnormality of mucopolysaccharide metabolism. J Pediatr 62:881–889
Rubin P (1964) Dynamic classification of bone dysplasias. Year Book Medical Publishers Inc. Chicago
Singh S, Petrie JG, Pirozynski WJ (1962) Clinicopathological review of ten cases of Morquio's disease. Can J Surg 5:404–410
Smith DW (1976) Recognizable patterns of human malformation. Genetic, embryologic and clinical aspects. Saunders, Philadelphia London Toronto
Spranger JW (1972) The systematic mucopolysaccharidoses. Erg Inn Med Kinderheilkd 32:165–265
Spranger JW (1977) Invited editorial comment: Beta galactosidase and the Morquio syndrome. Am J Med Genet 1:207–209
Spranger JW, Schuster W (1969) Diagnose und Differentialdiagnose der Morquioschen Krankheit. Monatsschr Kinderheilkd 117:272–278
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Holzgreve, W., Gröbe, H., von Figura, K. et al. Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB. Hum Genet 57, 360–365 (1981). https://doi.org/10.1007/BF00281685
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DOI: https://doi.org/10.1007/BF00281685