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Desbuquois syndrome (1991)

LeMerrer, M. ; Young, I. D. ; Stanescu, V. ; [et al.]

Springer

European journal of pediatrics 150 (1991), S. 793-796

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ISSN: 1432-1076

Keywords: Multiple joint dislocation ; Prominent eyes ; Dwarfism ; Deviated digits ; Desbuquois syndrome ; Autosomal recessive inheritance

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Three patients with short stature, joint laxity, and peculiar pelvic radiology are described. The first case is similar to those described by Desbuquois et al. [3], with deviation of digitis and supernumerary metacarpal bones. The other two children are less severely affected and are compared with others reported in literature. The authors suggest the homogeneity of the Desbuquois syndrome in spite of the variability of expression.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF02026714

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