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MULTİPL EKZOSTOZ SENDROMLU İKİ KARDEŞ

TWO SIBLINGS WITH MULTIPL EXOSTOSES SYNDROME

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2008

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Multipl exostoses syndrome is a rare genetic disorder of cartilage differentiation. The main clinical and radiological features of this autosomal dominant syndrome are multiple ostechondromas (exostoses) developing from the epiphyses of long bones. Exostoses can lead to cosmetic and functional disturbances (vessel and nerve compression, arthritis) and they are associated with increased risk of malignant transformation. Therefore, it has been recommended that exostoses developing after the end of puberty should be evaluated with respect to chondrosarcomatous degeneration. Of the three genes responsible from the syndrome, two (EXT1 and EXT2) have been isolated and have been shown to be glycosyltransferases which are involved in the synthesis of heparan sulfate, a linear polysaccharide necessary for chondrocyte differentiation. EXT3 gene, which has been mapped to chromosome 19p has not been isolated yet. In this case report we describe two siblings, who, although displaying the typical findings since childhood, were diagnosed with multiple exostoses syndrome in the third decade.
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Abstract (Original Language): 
Multipl ekzostoz sendromu nadir görülen bir herediter k›k›rdak farkl›laflmas› bozuklu¤udur. Otozomal dominant olarak kal›t›lan multipl ekzostoz sendromunun en önemli klinik ve radyolojik bulgusu uzun kemiklerin epifizinden geliflen multipl osteokondromlard›r (ekzostozlar). Bunlar kozmetik ya da ifllevsel (damar ve sinir bas›lar›, artit) sorunlara yol açabildikleri gibi malign transformasyon riski de tafl›rlar. Bu nedenle özellikle pubertenin sonlanmas›ndan sonra ortaya ç›kan yeni lezyonlar›n kondrosarkom geliflimi aç›s›ndan de¤erlendirilmesi gerekti¤i vurgulanmaktad› r. Bugün için hastal›ktan sorumlu oldu¤u düflünülen üç genden ikisi (EXT1 ve EXT2) izole edilmifl olup bunlar› n k›k›rdak farkl›laflmas›nda görevli heparan sülfat›n sentezinde rol oynayan glikozil transferazlar oldu¤u anlafl› lm›flt›r. Ba¤lant› analizi ile 19p kromozomal bölgesine haritalanm›fl EXT3 geni ise henüz izole edilememifltir. Bu olgu bildiriminde çocukluk döneminden beri hastal›¤›n tipik özelliklerini göstermekle birlikte tan›s› üçüncü dekadda konulabilmifl multipl ekzostoz sendromlu iki kardefl sunulmaktad›r.
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  • 1
14-18
  • Turkish

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