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Journals / Ege Pediatri Bülteni / 2002 / Cilt: 9 - Sayı: 3

Dubowitz syndrome: Case report

Dubowitz sendromlu bir olgu

İnci ARIKAN
Şenay SAVAŞ
Gülten TANYER
Yıldız DALLAR
Ceyda TUNA
Pages
145–147
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

He is observed for the other anomalies previously defined and taken under control.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dubowitz syndrome is a rare autosomal recessive inherited disorder, characterised by peculiar fades, infantil eczema, prenatal and postnatal growth retardation, microcephaly.
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Key Findings & Data:We observed, a male infant, 3.5 months age, complaint of reccurrent pneumonia, chronic diarhea and hypertolerism broad nasal tip, mildly dysplastic ears.
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Conclusion & Impact:He is observed for the other anomalies previously defined and taken under control.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Dubowitz syndrome is a rare autosomal recessive inherited disorder, characterised by peculiar fades, infantil eczema, prenatal and postnatal growth retardation, microcephaly. We observed, a male infant, 3.5 months age, complaint of reccurrent pneumonia, chronic diarhea and hypertolerism broad nasal tip, mildly dysplastic ears. We defined him as Dubowitz syndrome because of the similar phenotypes. He is observed for the other anomalies previously defined and taken under control.

Özet

Dubowitz sendromu, prenatal ve postnatal büyüme geriliği, infantil ekzema, tipik yüz görünümü, mikrosefali ile karakterize otozomal resesif geçiş gösteren nadir görülen bir sendromdur. Sık tekrarlayan akciğer enfeksiyonu, kronik ishal, geniş göz aralığı, burun kökü basıklığı, düşük kulak çizgisi, yüksek damak, mikrognati, pes equinavarus deformitesi ve doğumsal kalça çıkığı nedeniyle kliniğimizde izleme alınan üç buçuk aylık erkek hasta, mevcut olan bulgular nedeni ile Dubowitz sendromu ile uyumlu bulundu. Literatürde belirtilen anomaliler açısından taranarak takibe alındı.

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Cite This Article

ARIKAN, İ., SAVAŞ, Ş., TANYER, G., DALLAR, Y., TUNA, C. (2022). Dubowitz syndrome: Case report. Ege Pediatri Bülteni, Cilt: 9 - Sayı: 3, 145–147. https://ajindex.com/articles/495868

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References (7)

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