Cov neeg muaj ntau tus mob pterygium, hom Escobar feem ntau muaj qhov txawv ntawm lub ntsej muag nrog rau cov tawv muag muag (ptosis), sab nraud ntawm lub qhov muag uas taw tes rau hauv qab (downslanting palpebral fissures), tawv nqaij folds npog lub kaum sab hauv ntawm lub qhov muag (epicanthal folds), lub puab tsaig me me, thiab pob ntseg qis.
Dab tsi ua rau Escobar syndrome?
Ntau yam pterygium syndrome, Escobar variant (MPSEV) yog ib yam mob uas tsis tshua muaj tshwm sim, uas tau txais los ntawm tus qauv autosomal recessive. Nws muaj qhov xwm txheej tsis paub tab sis muaj ntau dua ntawm cov menyuam yaus los ntawm kev sib raug zoo. Nws tshwm sim los ntawm kev hloov pauv hauv CHRNG noob, ntawm chromosome 2q.
Can Escobar syndrome kho tau?
Tam sim no tsis muaj kev kho mob rau ntau yam pterygium syndrome, hom Escobar. Raws li qhov tshwm sim, kev kho mob yog tsom los tswj cov tsos mob tshwm sim.
Perygium syndrome yog dab tsi?
Kev Sib Tham Sib Tham. Ntau yam pterygium syndrome yog ib yam kab mob uas tsis tshua muaj tshwm sim los ntawm lub ntsej muag me me, lub cev luv luv, vertebral defects, ntau pob qij txha nyob rau hauv txoj hauj lwm ruaj (cov ntawv cog lus) thiab webbing (pterygia) ntawm caj dab, sab hauv. khoov ntawm lub luj tshib, nraub qaum ntawm lub hauv caug, caj npab thiab ntiv tes.
Puas yog popliteal pterygium syndrome yog kab mob tsawg?
Popliteal pterygium syndrome yog ib yam mob tsis tshua muaj, tshwm sim hauv kwv yees li 1 ntawm 300,000 tus neeg. Kev hloov pauv hauv IRF6 geneua rau popliteal pterygium syndrome. IRF6 noob muab cov lus qhia rau kev ua cov protein uas ua lub luag haujlwm tseem ceeb hauv kev loj hlob thaum ntxov.
