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Journals / Mersin Üniversitesi Sağlık Bilimleri Dergisi / 2021 / Cilt: 14 - Sayı: 2

A case of osteogenesıs ımperfecta type 5 wıth dıfferent phenotypıc features wıth the presence of blue sclera

Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu

Didem GÜNEŞ KORKUT
Deniz KOR
Fatma Derya BULUT
Sebile KILAVUZ
Serdar CEYLANER
Tuğsan BALLI
H. Neslihan ÖNENLİ MUNGAN
Pages
354–359
Publication Date
2021-08-25
DOI
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AI Summary & Key Takeaways

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

This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes.
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Key Findings & Data:In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes.
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Conclusion & Impact:This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Osteogenez imperfekta · osteoporoz · bisfosfonat

Abstract

Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes. It occurs as a result of mutations in genes responsible for making Type I collagen. In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes. In the rest, mutations in the IFITM5 gene are responsible for 5-10% of the cases. The most common mutation seen in IFITM5 gene “c. - 14C> T ” is responsible for autosomal dominant OI Type V. There are many clinical variations of OI type V. The fact that the poor phenotypic features in some cases make the diagnosis more difficult. This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.

Özet

Osteogenez İmperfekta, birçok fenotipe sahip, nadir görülen kalıtsal bir kemik metabolizması hastalığıdır. Tip I kollajen yapımından sorumlu genlerdeki mutasyonlar sonucunda oluşur. Hem otozomal dominant hem de otozomal resesif geçişli bu hastalıkta, vakaların %80'inden fazlası en yaygın COL1A1 ve COL1A2 genlerindeki mutasyonlarla ilişkilidir. IFITM5 genindeki mutasyonlar ise vakaların %5-10'undan sorumludur. IFITM5 geninde görülen en yaygın mutasyon “c. - 14C> T”, otozomal dominant Osteogenez İmperfekta Tip V'den sorumludur. Osteogenez İmperfekta Tip V’in klinik varyasyonu çoktur. Bazı durumlarda fenotipik özelliklerin zayıf olması tanıyı daha da zorlaştırır. Bu olgu sunumu hem hastanemizde ilk tanı konulan Osteogenez İmperfekta Tip V olgusu olması hem de klinik özelliklerinin farklı olması nedeniyle sunulmuştur.

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Cite This Article

KORKUT, D. G., KOR, D., BULUT, F. D., KILAVUZ, S., CEYLANER, S., BALLI, T., MUNGAN, H. N. Ö. (2021). A case of osteogenesıs ımperfecta type 5 wıth dıfferent phenotypıc features wıth the presence of blue sclera. Mersin Üniversitesi Sağlık Bilimleri Dergisi, Cilt: 14 - Sayı: 2, 354–359. https://ajindex.com/articles/398583

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