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Print version ISSN 0100-3984
On-line version ISSN 1678-7099
FIGUEIREDO, Sizenildo da Silva et al. Rhizomelic chondrodysplasia punctata: a case report and brief literature review. Radiol Bras [online]. 2007, vol.40, n.1, pp.69-72. ISSN 0100-3984. http://dx.doi.org/10.1590/S0100-39842007000100014.
The authors present a case of a 2-month-old infant affected by the recessive form of chondrodysplasia punctata, a rare condition radiologically characterized by severe proximal shortening and anomalous ossification (epiphyseal stippling) of the limbs. Clinical and radiological findings as well as main differential diagnoses are emphasized on the basis of data originating from a brief literature review.
Keywords : Chondrodysplasia punctata; Bone dysplasia; Peroxisomal disorders.