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Desbuquois' syndrome

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Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. Major features include chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency. Inheritance is autosomal recessive. Some cases of parental consanguinity reported.

The patients of Desbuquois et al, aged 8 years and 20 months, showed chondrodystrophy with severe dwarfism, dislocation of the patellas and hips, glaucoma, and mental retardation


  • G. Desbuquois, B. Grenier, J. Michel, C. Rossignol:
    Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Archives françaises de pédiatrie, Paris, 1966, 23: 573-587.
  • G. Gillessen-Kaesbach, P. Meinecke, G. E. M Ausems, M. Nöthen, B. Albrecht, F. A. Beemer, K. Zerres:
    Desbuquois syndrome. Three further cases and review of the literature.
    Clinical Dysmorphology, 1995 4:136-44.

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