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Digitale Medien

Desbuquois syndrome (1991)

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

Springer

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

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Details

ISSN: 1432-1076

Schlagwort(e): Multiple joint dislocation ; Prominent eyes ; Dwarfism ; Deviated digits ; Desbuquois syndrome ; Autosomal recessive inheritance

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: 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.

Materialart: Digitale Medien

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

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