Ntau yam pterygium syndrome yog tsis tshua muaj kab mob caj ces tshwm sim los ntawm lub ntsej muag me me, lub cev luv luv, vertebral defects, ntau pob qij txha hauv txoj haujlwm ruaj khov (cov ntawv cog lus) thiab webbing (pterygia) ntawm caj dab, sab hauv khoov ntawm lub luj tshib, nraub qaum ntawm lub hauv caug, armpits thiab ntiv tes.
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.
Puas yog Escobar syndrome tuag taus?
Ob hom kab mob ntau yam pterygium yog sib txawv los ntawm qhov hnyav ntawm lawv cov tsos mob. Ntau yam pterygium syndrome, Escobar hom (qee zaus hu ua Escobar syndrome) yog qhov mob me dua ntawm ob hom. Kev tuag ntau pterygium syndrome yog tuag ua ntej yug los yog sai tom qab yug
Bartsocas Papas syndrome yog dab tsi?
Bartsocas-Papas syndrome yog ib qho tsis tshua muaj, muaj txiaj ntsig, popliteal pterygium syndrome (saib lo lus no) tus cwj pwm los ntawm qhov mob hnyav popliteal webbing, microcephaly, ib lub ntsej muag nrog luv palpebral fissures, ankyloblepharon, hypoplastic qhov ntswg, filiform bands ntawm lub puab tsaig thiab lub ntsej muag clefts, oligosyndactyly, qhov chaw mos …
Dab tsi yog popliteal pterygium syndrome?
Popliteal pterygium syndrome (PPS) yog ib qho tsis tshua muaj autosomal dominant disorder, xav tias yuav tshwm sim nrog kwv yees li 1 ntawm 300 000 yug me nyuam. Cov tsos mob tseem ceeb yog popliteal webbing, cleft di ncauj, cleft palate, qis di ncauj pits, syndactyly, thiab qhov chaw mos thiab ntsia thawv anomalies.
