Can CELİLOĞLU, Ayşehan AKINCI, Serdal GÜNGÖR, Metehan ÖZEN, Emine KOCAMAZ

Rizomelik kondrodisplazia punktata

Rizomelik kondrodisplazia punktata (RKP), peroksizom metabolizması bozukluğu ile ilgili, epifizyal kıkırdaklardanoktasal tarzda kalsifikasyonlar, vertebral koronal kleftler, proksimal uzun kemiklerde simetrik kısalma (rizomeli),tipik dismorfik yüz, eklemlerde hareket kısıtlılı ı, bilateral katarakt, nöbetler, ciddi solunumsal sorunlar, ekzema, a ırbüyüme gerili i ve psikomotor gerilik ile karakterizedir. Nadir görülen bu olgular klinik bulgular ve rutin laboratuaryöntemleriyle tanı alabilirler. Ailelere genetik danı manlık önerilerek prenatal tanı yöntemleriyle tekrarlar önlenebilir.

Rhisomelic chondrodysplasia punctata

Rhisomelic Chondrodysplasia Punctata (RCP) is a peroxisome metabolism disorder characterized by abnormalpunctate calcifications in the epiphyseal cartilages, vertebral coronal clefts, symetrical shortening of proximal longbones, 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 easilydiagnosed by the help of clinical findings and unsophisticated laboratory methods. Recurrences can be avodied bythe help of genetic counseling.

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