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Journals / Sakarya Tıp Dergisi / 2026 / Volume: 15 Issue: 2

A Child with Aarskog Scott Syndrome and Autism Spectrum Disorder

Nur Seda Gülcü Üstün(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İSTANBUL KANUNİ SULTAN SÜLEYMAN SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK PSİKİYATRİSİ ANABİLİM DALI)0000-0003-2278-9674
Pages
—
Publication Date
2025-06-30
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AI Summary & Key Takeaways

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

In this report, we will present a case with Aarskog Scott syndrome and Autism Spectrum Disorder.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is increasingly common in society, characterized by limitations in social communication and some repetitive behaviors.
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Key Findings & Data:Many genetic factors such as genetic syndromes and single gene mutations and many environmental factors play a role in the etiology of ASD.
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Conclusion & Impact:In this report, we will present a case with Aarskog Scott syndrome and Autism Spectrum Disorder.
🔬Design:Case Report
📍Scope:Comprehensive Sample
⚙️Variables:Autism · Aarskog Scott syndrome · Genetic

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is increasingly common in society, characterized by limitations in social communication and some repetitive behaviors. Many genetic factors such as genetic syndromes and single gene mutations and many environmental factors play a role in the etiology of ASD. Many genetic syndromes accompanying ASD have been reported. Aarskog-Scott Syndrome is a rare genetic disorder characterized by facial, digital, and genital anomalies, including a broad upper lip, anteverted nostrils, ptosis, hypertelorism, shawl scrotum, short stature, flat feet, and genu recurvatum. Cases with learning difficulties, hyperactivity, or cognitive retardation have been reported to date with Aarskog Scott syndrome. However, to our knowledge, one case report of ASD and Aarskog Scott syndrome has been reported. In this report, we will present a case with Aarskog Scott syndrome and Autism Spectrum Disorder.

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Cite This Article

Üstün, N. S. G. (2025). A Child with Aarskog Scott Syndrome and Autism Spectrum Disorder. Sakarya Tıp Dergisi, Volume: 15 Issue: 2. https://doi.org/10.31832/smj.1634144

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