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Journals / Kartal Eğitim ve Araştırma Hastanesi Tıp Dergisi / 2016 / Cilt: 27 - Sayı: 1

Seckel Syndrome: A Rare Case Report

Seckel Sendromu: Nadir Bir Olgunun Sunumu

Özlem ÖZDEMİR
Sevil DORUM
Bayram Ali DORUM
Cansu KARA
Pages
88–90
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

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

Presently reported is a case of Seckel syndrome diagnosed with symmetric intrauterine growth retardation and clinical symptoms.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Seckel syndrome is an autosomal recessive disorder, characterized by intrauterine growth retardation, microcephaly, atypical appearance with hypoplastic face and mental retardation.
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Key Findings & Data:This syndrome may be accompanied by renal, cardiac, hematological, skeletal and central nervous system abnormalities.
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Conclusion & Impact:Presently reported is a case of Seckel syndrome diagnosed with symmetric intrauterine growth retardation and clinical symptoms.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Seckel syndrome is an autosomal recessive disorder, characterized by intrauterine growth retardation, microcephaly, atypical appearance with hypoplastic face and mental retardation. This syndrome may be accompanied by renal, cardiac, hematological, skeletal and central nervous system abnormalities. Presently reported is a case of Seckel syndrome diagnosed with symmetric intrauterine growth retardation and clinical symptoms.

Özet

Seckel sendromu otozomal resesif geçişli gelişimsel bir bozukluktur. İntrauterin büyüme geriliği, mikrosefali, atipik görünümlü hipoplastik yüz ve mental retardasyon ile kendini gösterir. Bu sendroma renal, kardiyak, hematolojik, iskelet ve merkezi sinir sistemini ilgilendiren anomaliler de eşlik edebilir. Bu yazıda, simetrik intrauterin büyüme geriliği öyküsü olan ve klinik bulgular ile Seckel sendromu tanısı alan olgu nadir görülmesi nedeniyle sunuldu.

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Cite This Article

ÖZDEMİR, Ö., DORUM, S., DORUM, B. A., KARA, C. (2022). Seckel Syndrome: A Rare Case Report. Kartal Eğitim ve Araştırma Hastanesi Tıp Dergisi, Cilt: 27 - Sayı: 1, 88–90. https://ajindex.com/articles/571284

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