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Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2015 / Cilt: 49 - Sayı: 2

A case with Wolf-Hirschhorn syndrome

Bir olgu ile Wolf-Hirschhorn sendromu

Ayse KARTAL
Betül KILIÇ
Pages
152–154
DOI
—
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

We herein report a 16-month-old girl with severe intrauterin-growth-retardation, atypical facial anomalies, seizures and abnormal electroencephalography that was diagnosed with karyotype analysis.

📌 3 Key Takeaways

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Objective & Hypothesis:Wolf-Hirschhorn syndrome (WHS) is a rare well-known genetic condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and seizures.
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Key Findings & Data:Wolf-Hirschhorn syndrome (WHS) is a rare well-known genetic condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and seizures.
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Conclusion & Impact:We herein report a 16-month-old girl with severe intrauterin-growth-retardation, atypical facial anomalies, seizures and abnormal electroencephalography that was diagnosed with karyotype analysis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare well-known genetic condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and seizures. We herein report a 16-month-old girl with severe intrauterin-growth-retardation, atypical facial anomalies, seizures and abnormal electroencephalography that was diagnosed with karyotype analysis.

Özet

Wolf-Hirschhorn sendromu (WHS), 4. kromozomun kısa kolunun distal kısmında delesyon (4p-) sonu - cu oluşan, psikomotor geriliğe genellikle prenatal ve postnatal büyüme geriliğinin eşlik ettiği, ağır mental retardasyon, tipik yüz anomalileri, orta hat defektleri, iskelet anomalileri, hipotoni ve nöbet varlığı ile karakterize nadir görülen bir genetik hastalıktır. Burada, intrauterin büyüme geriliği, atipik yüz görünümü, nöbet ve anormal elektroensefalografi bulguları olan karyotip analizi ile kesin tanı alan 16 aylık WHSli bir kız olgu sunulmaktadır.

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Cite This Article

KARTAL, A., KILIÇ, B. (2015). A case with Wolf-Hirschhorn syndrome. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 49 - Sayı: 2, 152–154. https://ajindex.com/articles/399606

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