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Case Report

Ann Med Res. 2006; 13(3): 181-184


Rhisomelic Chondrodysplasia Punctata

  Serdal Güngör*, Can Celiloğlu*, Emine Kocamaz*, Metehan Özen*, Ayşehan Akıncı*.


Abstract

 

Rhisomelic Chondrodysplasia Punctata (RCP) is a peroxisome metabolism disorder characterized by abnormal punctate calcifications in the epiphyseal cartilages, vertebral coronal clefts, symetrical shortening of proximal long bones, typical dysmorphic facies, limited joint movements, bilateral cataracts, seizures, serious respiratory problems, eczema, serious growth retardation and  psychomotor retardation. Although it is a rare disorder, it can be easily diagnosed by the help of clinical findings and unsophisticated laboratory methods. Recurrences can be avodied by the help of genetic counseling.

Key Words: Chondrodysplasia punctata, Rhizomelia, Peroxisomal disorders

 






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