Campomelic dysplasia feem ntau tshwm sim los ntawm kev hloov caj ces tshiab (DNA variant) hauv lossis ze ntawm SOX9 noob. Kev kuaj mob yog raws li kev tshawb pom lub cev thiab x-ray(xov tooj cua) tshawb pom thiab tuaj yeem lees paub los ntawm kev kuaj caj ces.
Puas yog campomelic dysplasia ua rau tuag?
Campomelic dysplasia yog ib hom tsis tshua muaj pob txha pob txha pob txha dysplasia uas cuam tshuam txog kwv yees li 1 ntawm 40,000-200,000 tus neeg. Nws nyuaj los ntawm kev ua pa nyuaj thiab yog li keeb kwm tau suav tias yog kab mob tuag taus, nrog rau cov tib neeg feem coob tsis muaj sia nyob yav dhau los.
Dab tsi ua rau campomelic dysplasia hauv cov menyuam mos?
Feem ntau ntawm cov mob campomelic dysplasia yog tshwm sim los ntawm mutations hauv SOX9 noob. Cov kev hloov pauv no tiv thaiv kev tsim cov SOX9 protein los yog ua rau cov protein ua haujlwm tsis zoo.
campomelic dysplasia yog dab tsi?
Campomelic Syndrome yog ib qho tsis tshua muaj daim ntawv ntawm pob txha dysplasia yam ntxwv los ntawm kev hneev taw thiab cov duab angular ntawm cov pob txha ntev ntawm ob txhais cegKaum ib teev ntawm tav es tsis yog kaum ob li niaj zaus tuaj yeem tshwm sim.. Lub pelvis thiab lub xub pwg hniav tuaj yeem tsim kho tsis tau. Lub pob txha taub hau yuav loj, ntev thiab nqaim.
Dab tsi ua rau Boomerang dysplasia?
Mutations hauv FLNB noob ua rau boomerang dysplasia. FLNB noob muab cov lus qhia rau kev ua cov protein hu ua filamin B. Cov protein no pab tsim lub network ntawm cov protein filaments (cytoskeleton) uas muab cov qauv rau cov hlwb thiab tso cai rau lawv hloov cov duab thiab txav mus.
