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