Morquio-Brailsford syndrome

Alternative eponyms

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A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness.

Description

An uncommon storage disease characterised by a skeletal dysplasia in which short trunk dwarfism (growth stops at 6 years of age) is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. The combined abnormalities usually result in a duck-waddling gait. Mental development is usually normal but progressive intellectual deterioration was reported in type B. Expected life-span is unimpaired. There is a slight predilection for the male. Death usually takes place in the twenties due to aortic valve diseases. Its incidence is 1: 40.000.

It is an inborn error of metabolism characterized by faulty degradation of keratan sulfate with deposits in tissues of glycosaminoglycans due to N-acetylgalactosamine-6-sulfatase deficiency. Keratin sulphate is excreted in large amounts in urine Occurs in two forms depending on which gene is mutated:. A: with a deficiency of the enzyme galactosamine-6-sulphate sulphatase; B: with a deficiency of the enzyme B-galactosidase. Inheritance is autosomal recessive; familial influences are common.

In 1929 Morquio described a form of "familial skeletal dystrophy" in the French literature. The consanguineous affected family were of Swedish stock and four out of five children had the disorder. The same year Brailsford gave an account of the clinical and radiological features of a child with «chondro-osteo-dystrophy».

Morquio-Ullrich syndrome is entered as a separate entity.

Bibliography

  • M. Bracher:
    Chondrodystrophia congenita tarda.
    Zeitschrift für orthopädische Chirurgie, 1933, 58:503-518.
  • L. Morquio:
    Sur une forme de dystrophie osseuse familiale.
    Archives de médecine des enfants, Paris, 1929, 32: 129-135.
    Bulletin de la Société de pédiatrie de Paris, 1929, 27: 145-152.
  • J. F. Brailsford:
    Chondro-osteo-dystrophy. Roentgenopgraphic & clinical features of a child with dislocation of vertebrae.
    The American Journal of Surgery, New York, 1929, 7: 404-410.
    The British Journal of Radiology, London, NS, 1931, 4: 83-89.
  • T. Dale:
    Unusual forms of familial osteochondrodystrophy.
    Acta Radiologica, Stockholm, 1931, 12: 337-358.
  • O. Ullrich:
    Die Pfaundler-Hurlersche Krankheit. Dysostosis multiplex (Hurler).Dysostotische Idiotie (Hässler).Familiär-dysostotischer Zwergwuchs; Typ-Pfaundler-Hurler (De Rudder)-Gargoylismus (Ellis-Sheldon und Capon). Ein Beitrag zum Problem pleiotroper Genwirkung in der Erbpathologie des Menschen.
    Ergebnisse der Inneren Medizin und Kinderheilkunde, Berlin, 1943, 63: 929-1000.

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