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Maroteaux-Lamy syndrome III

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A congenital disease of bone evident from early infancy, characterized by short-limbed dwarfism, a large skull with persistent fontanelle, receding chin, dental anomalies, disproportionately large calvarium, frontal and occipital bossing, small face, hypoplasia of the angle of the mandible, parrotlike nose, mild exophthalmos, and receding chin. Bone defects may include genu valgum, kyphosis, scoliosis, lumbar lordosis, hypoplasia of the clavicle, pectus excavatum, and short and wide digits. There is increased bone fragility causing fractures, especially of the lower extremities. Also terminal pychnodystosis. Occasionally, mental retardation. Etiology unknown. Inheritance is autosomal recessive. Parental consanguinity has been noted in some cases. Both sexes affected. Toulouse-Lautrec is said to have been afflicted with this syndrome.

Henri de Toulouse-Lautrec, French painter, 1864-190:
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  • U. Montanari:
    Acondroplasia e distosi cleidocranica digitale.
    Chirurgia degli organi di movimento, Bologna, 1923, 7: 379-391.
  • F. Collado-Otero:
    Una forma mas de distrofia osea.
    Acta pediatrica española, Madrid, 1956, 14: 1-27.
  • P. Maroteaux, M. Lamy:
    La pycnodysostose.
    La presse médicale, Paris, 1962, 70: 999-1002.
  • P. Maroteaux, M. Lamy:
    The malady of Toulouse-Lautrec.
    Journal of the American Medical Association, Chicago, 1965, 191: 715-717.

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