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Journals / Erciyes Tıp Dergisi / 2008 / Cilt: 30 - Sayı: 4

A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia

Fetal aritmi gelişen rizomelik kondrodisplazi punktatalı bir olgu

Nahide ALTUĞ
Serdar CEYLANER
Dilek DİLLİ
Handan YASAR
Uğur DİLMEN
Selda KARADENİZ
Zekiye BAYDAR
Pages
278–283
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

He was reported as he was complicated with fetal arrhythmia because of congenital heart defect which is rarely seen in RCDP.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
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Key Findings & Data:Here we described RCDP in a male newborn based on typical clinical, biochemical, and radiological findings.
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Conclusion & Impact:He was reported as he was complicated with fetal arrhythmia because of congenital heart defect which is rarely seen in RCDP.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

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.

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Cite This Article

ALTUĞ, N., CEYLANER, S., DİLLİ, D., YASAR, H., DİLMEN, U., KARADENİZ, S., BAYDAR, Z. (2022). A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia. Erciyes Tıp Dergisi, Cilt: 30 - Sayı: 4, 278–283. https://ajindex.com/articles/502641

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