2Department of Neonatology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
3Department of Medical Genetics, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
4Clinic of Pediatric Cardiology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey
5Department of Radiology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
Abstract
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive syndrome characterized by punctuate calcifications of the cartilage associated with proximal limb shortening, joint contractures, cataracts, failure to thrive, and severe mental-motor retardation. Here we described RCDP in a male newborn based on typical clinical, biochemical, and radiological findings. He was reported as he was complicated with fetal arrhythmia because of congenital heart defect which is rarely seen in RCDP.
2Department of Neonatology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
3Department of Medical Genetics, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
4Clinic of Pediatric Cardiology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey
5Department of Radiology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
Rizomelik kondrodisplazi punktata (RCDP) ekstremitelerde proksimal kısalık, eklem kontraktürleri ve epifizlerde punktat kalsifikasyonlar ile katarakt, gelişme geriliği ve ağır mental retardasyonla karakterize otozomal resesif kalıtılan nadir görülen bir sendromdur. Bu yazıda sunulan yenidoğan olguya klinik, biyokimyasal ve radyolojik bulgular ile RCDP tanısı konuldu. Olgu, RCDP' de nadir görülen konjenital kalp hastalığının neden olduğu fetal aritmi komplikasyonu gelişmiş olması nedeniyle sunuldu.