Sizenildo da Silva Figueirêdo, Jobelino Sousa de Araújo, José Eduardo Marini Kozan, Nilton César Lima dos Santos, Valessa Tanganeli
Radiol Bras 2007;40(1):69-72 - CASE REPORT
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
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