Hereditary multiple exostoses

Objective & Hypothesis:Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple cartilaginous tumors (osteochondrosarcomas or exostoses) growing outward from the metaphyses of long bones.

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Key Findings & Data:The birth prevalence is estimated at 1/50.000.

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Conclusion & Impact:We emphasized that the genetic counseling is necessary for individuals and families with herediter multiple exostoses as our cases.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Eksostoz · çoklu kalıtsal · Osteokondrom

Abstract

Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple cartilaginous tumors (osteochondrosarcomas or exostoses) growing outward from the metaphyses of long bones. The birth prevalence is estimated at 1/50.000. Osteochondromas may cause complications including pain, discomfort, restricted range of joint movement deformities and shortening of the long bones, nerve or blood vessel compression and malignant transformation. We reported three siblings for herediter multiple exostoses is a skeletal displasia which is rarely seen. We emphasized that the genetic counseling is necessary for individuals and families with herediter multiple exostoses as our cases.

Özet

Herediter multiple eksostoz, çok sayıda uzun kemiğin metafizinden dışarı büyüyen kıkırdakla kaplı benign kemik tümörü ile karakterize genetik bir hastalıktır. Prevalansının 1/50.000 olduğu tahmin edilmektedir. Eksostozlar iskelet büyümesinde duraklama, kemiklerde deformite, eklem hareketlerinde kısıtlanma, kısa boy, erken osteoartroz ve periferik sinir basısı gibi semptomlara neden olabilir. Malign dejenerasyon riski düşük (yaklaşık %1) olmasına rağmen kondrosarkoma dönüşüm riski yaşla artar. Herediter multiple eksostozun nadir görülen bir kemik displazisi olması nedeniyle üç vaka sunulmaktadır. Vakalarımızda olduğu gibi herediter multiple eksostozlu birey ve aileler için genetik konsültasyonun gerektiğini vurguladık.

Keywords

Eksostoz çoklu kalıtsal Osteokondrom Exostoses Multiple Hereditary Osteochondroma

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Cite This Article

PİRGON, Ö., ATABEK, M. E., SERT, A. (2005). Hereditary multiple exostoses. Medical Network Klinik Bilimler ve Doktor, Cilt: 11 - Sayı: 1, 70–72. https://ajindex.com/articles/278392

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