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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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Treatment


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How might Debuquois syndrome be treated?

Only symptomatic treatment is currently available for individuals with Desbuquois syndrome. Severe scoliosis, a common complication, may be managed with physical therapy to control the progression of spine abnormalities. Arthrodesis (surgical fusion of a joint) may be considered for dislocations. Surgery may be considered for glaucoma. Because of the degree of shortness in affected individuals, psychological support may be appropriate for some individuals.[1]
Last updated: 6/14/2011

References
  1. Laurence Faivre and Valerie Cormier-Daire. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf. Accessed 6/14/2011.