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Journals / İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi / 2014 / Cilt: 4 - Sayı: 3

A newborn with Dubowitz syndrome: a case report

Dubowitz sendromlu bir yenidoğan olgusu

ÖZKAN İLHAN
Senem ALKAN
Yaşar Bekir KUBLAY
Esra ÖZER ARUN
Pages
211–213
DOI
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AI Summary & Key Takeaways

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

Here, we felt the need to report this case because of its rarity.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dubowitz syndrome was first reported in 1965 by Victor Dubowitz.
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Key Findings & Data:Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation.
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Conclusion & Impact:Here, we felt the need to report this case because of its rarity.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high palate, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we felt the need to report this case because of its rarity.

Özet

Dubowitz sendromu ilk kez 1965 yılında Victor Dubowitz tarafından bildirildi. Dubowitz sendromu mikrosefali, tıknaz vücut yapısı, anormal yüz, egzamatöz cilt lezyonları ve hafif-orta dereceli mental retardasyon ile karakterize otomozal resesif geçen ender görülen bir hastalıktır. Tanımlanan yenidoğan kız olguda mikrosefali, mikrognati, yüksek damak, sindaktili, klinodaktili, ventriküler septal defekt, beslenme güçlüğü ve sakral gamze vardı. Bu olguyu ender görülmesi nedeniyle yayınlama gereksinimi duyduk.

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Cite This Article

İLHAN, Ö., ALKAN, S., KUBLAY, Y. B., ARUN, E. Ö. (2014). A newborn with Dubowitz syndrome: a case report. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, Cilt: 4 - Sayı: 3, 211–213. https://ajindex.com/articles/210948

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References (8)

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