Bir infantta smith-lemli-opitz sendromu ve ortak atrium birlikteliği

Objective & Hypothesis:Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels.

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Key Findings & Data:The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment.

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Conclusion & Impact:We present a 4-month-old infant case of such association.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect is found in half of the Smith-Lemli-Opitz syndrome patients. To our knowledge, the association of common atrium and Smith-Lemli-Opitz syndrome has not been described before in the medical literature. We present a 4-month-old infant case of such association.

Özet

Smith-Lemli-Opitz sendromu düşük plazma kolesterol düzeylerinin eşlik ettiği çoklu doğumsal anomali/mental gerilik ile kendini gösteren nadir bir sendromdur. Klinik spektrum holoprozonsefali ya da letal malformasyonlarla prenatal ölümden normal zeka ya da hafif zihinsel bozukluk ve hafif fiziksel anormalliği olan hastalara kadar değişmektedir. Doğumsal kalp hastalığı Smith-Lemli-Opitz sendromlu hastaların yarısında bulunmaktadır. Bilgilerimize göre, Smith-Lemli-Opitz sendromu ve ortak atrium birlikteliği tıp literatüründe daha önceden açıklanmamıştır. Böyle birlikteliğin olduğu 4 aylık infant olguyu sunuyoruz.

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Cite This Article

SERT, A., PİRGON, Ö., ATABEK, M. E., DOĞAN, M. (2008). Bir infantta smith-lemli-opitz sendromu ve ortak atrium birlikteliği. Marmara Medical Journal, Cilt: 21 - Sayı: 3, 261–264. https://ajindex.com/articles/284059

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