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Journals / Medical Network Klinik Bilimler ve Doktor / 2003 / Cilt: 9 - Sayı: 2

Case report of two siblings with Rothmund-Thomson syndrome

Rothmund-Thomson sendromu olan iki kardeşin olgu sunumu

M. Zeki YAŞAR
Alev GÜVEN
Gülşen KÖSE
Mehmet GÜNDÜZ
Pages
193–196
DOI
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AI Summary & Key Takeaways

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

We present two siblings with Rothmund-Thomson syndrome.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Rothmund-Thomson syndrome, also called poikiloderma congenitale, is a rare autosomal recessive disease.
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Key Findings & Data:Patients exhibit variable features including short stature, alopecia, juvenile cataracts, muskuloskeletal or bone defects, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis, high incidence of cutaneous and noncutaneous malignancies.
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Conclusion & Impact:We present two siblings with Rothmund-Thomson syndrome.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Çocuk · Poikiloderma konjenitale · Child

Abstract

Rothmund-Thomson syndrome, also called poikiloderma congenitale, is a rare autosomal recessive disease. Patients exhibit variable features including short stature, alopecia, juvenile cataracts, muskuloskeletal or bone defects, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis, high incidence of cutaneous and noncutaneous malignancies. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We present two siblings with Rothmund-Thomson syndrome.

Özet

Rothmund-Thomson Sendromu (RTS) veya diğer adıyla poikiloderma konjenitale nadir görülen otosomal resesif geçişli multisistemik bir hastalıktır. Hastalarda sıklıkla kısa boy, alopesi, jüvenil katarakt, hipogonadizm, displastik tırnaklar, anhidrozis, deri ve iskelet sistemi tutulumu ve malignansiye eğilim görülür. Bazı vakalarda klonal veya mozaik kromozom anormalliği ve DNA onarım defekti olduğu bildirilmiştir. Bu makalede Rothmund-Thomson Sendromu tanısı alan iki kardeşi nadir görülmeleri nedeniyle sunmak istedik.

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Cite This Article

YAŞAR, M. Z., GÜVEN, A., KÖSE, G., GÜNDÜZ, M. (2003). Case report of two siblings with Rothmund-Thomson syndrome. Medical Network Klinik Bilimler ve Doktor, Cilt: 9 - Sayı: 2, 193–196. https://ajindex.com/articles/279153

References (8)

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