Çocuk Sağlığı ve Hastalıkları Dergisi 2013 , Vol 56 , Num 4
Rhizomelic chondrodysplasia punctata: a case report
*Pınar Zengin Akkuş1, Şahin Takcı2, Eda Ütine3, H, Serap Sivri4, Murat Yurdakök4
Hacettepe Üniversitesi Tıp Fakültesi 1Pediatri Araştırma Görevlisi, 2Pediatri Uzmanı, 3Pediatri Doçenti, 4Pediatri Profesörü
*İletişim: pnrzengin@hotmail.com
Rhizomelic chondrodysplasia punctata is a rare peroxisome biogenesis disorder that is inherited in an autosomal recessive manner. Herein, we present an infant suffering from difficulty moving her extremities, who also had some dysmorphic features such as saddle nose, prominent forehead, bilateral cataracts, and distinct shortness of proximal extremities. Punctate calcifications on the epiphyses of the humeri and femora and coronal clefts of the vertebrae were present radiographically. This patient was diagnosed with rhizomelic chondrodysplasia punctata, and had characteristic clinical and radiological findings. Anahtar Kelimeler : rizomelik kondrodisplazi punktata, yenidoğan.
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