Video: Dab tsi ua rau Ellis Van Creveld syndrome?
2024 Tus sau: Miles Stephen | [email protected]. Kawg hloov kho: 2023-12-15 23:36
Ellis – Van Creveld Syndrome yog ua rau los ntawm kev hloov pauv hauv EVC noob, nrog rau los ntawm kev hloov pauv hauv cov noob uas tsis yog homologous, EVC2, nyob ze rau EVC gene hauv kev teeb tsa lub taub hau. Cov noob tau txheeb xyuas los ntawm qhov chaw cloning. EVC gene maps rau chromosome 4 luv caj npab (4p16).
Yog li ntawd, ntau npaum li cas yog Ellis Van Creveld syndrome?
Hauv ntau qhov chaw ntawm lub ntiaj teb, Ellis - Van Creveld Syndrome tshwm sim hauv 1 ntawm 60,000 txog 200,000 tus menyuam yug tshiab. Nws yog ib qho nyuaj rau kwv yees qhov tseeb prevalence vim lub tsis meej pem yog heev tsis tshua muaj nyob rau hauv cov pej xeem.
Tsis tas li ntawd, EVC lub sij hawm kho mob yog dab tsi? Ellis-van Creveld Syndrome: Ib hom luv luv stature nrog striking shortening ntawm qhov kawg ntawm cov extremities (caj npab thiab ob txhais ceg), polydactyly (ntxiv tus lej), fusion ntawm pob txha nyob rau hauv dab teg, dystrophy (kev loj hlob txawv txav) ntawm cov rau tes, hloov hauv daim di ncauj sab sauv ntau yam hu ua 'ib nrab hare-lip, 'lip-kie,' thiab lwm yam, thiab mob plawv
Ib yam li ntawd, koj tuaj yeem nug, vim li cas ntau tus neeg Amish los ntawm Lancaster County muaj Ellis Van Creveld syndrome?
Cov syndrome yog feem ntau pom nyob rau hauv Qub Order Amish ntawm Pennsylvania, cov pej xeem uas ntsib qhov "tus tsim txiaj." Cov kab mob caj ces zoo li Ellis - yog van Creveld ntau concentrated ntawm cov Amish vim lawv sib yuav nyob rau hauv lawv lub zej zog, uas tiv thaiv kev hloov caj ces tshiab los ntawm kev nkag mus rau hauv
Qhov short rib polydactyly syndrome yog dab tsi?
Short rib polydactyly syndrome (SRPS) yog ib qho tsis tshua muaj txiaj ntsig, autosomal recessive, tuag pob txha dysplasia uas tuaj yeem kuaj tau los ntawm kev ua ntej USG. Nws yog tus cwj pwm los ntawm micromelia, luv tav , hypoplastic thorax, polydactyly (pre- thiab postaxial), thiab ntau yam anomalies ntawm lub cev loj.
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Thaum ib qho kev quab yuam sab nraud yog exerted rau ntawm cov kua uas muaj, qhov tshwm sim siab yog kis sib npaug thoob plaws hauv cov kua. Yog li txhawm rau kom dej ntws, dej xav tau qhov sib txawv siab. Cov kav dej kuj tuaj yeem cuam tshuam los ntawm cov kua dej, cov yeeb nkab loj, qhov kub thiab txias (cov kav dej khov), cov kua dej ntom ntom