Izimpawu, Ukuxilongwa, Nokunakekelwa
I-Jarcho-Levin syndrome yisici esiwumphumela wokukhubazeka kokuzalwa kofuzo okubangela amathambo angalungile emgodini (vertebrae) kanye nezimbambo. Izinsana ezalwa ne-Jarcho-Levin syndrome zinezintamo ezimfushane, ukunyakaza kwentamo encane, isikhashana esifushane nokuphefumula kanzima, ngenxa yamabhokisi amancane, ahlukumezekile anembala ebonakalayo efana ne-crab-like.
I-Jarcho-Levin syndrome ifika kumafomu amabili azuzwa njengezici zobuncwane eziphindaphindiwe futhi ebizwa ngokuthi:
- I-Spondylocostal Dysostosis uhlobo 1 (SCDO1)
- I-Spondylocostal Dyostosis uhlobo 2 (SCDO2) (leli fomu linamandla kune-SCDO1, ngoba akuwona wonke ama-vertebrae aphethwe)
Kukhona elinye iqembu lezinkinga ezifanayo ezibizwa ngokuthi i-spondylocostal dysostoses (hhayi njenge-Jarcho-Levin syndrome enzima kakhulu) eyaziwa nangomuthi ongenalutho nangamabhande.
I-Jarcho-Levin syndrome iyinto engavamile futhi iyathinta kokubili abesilisa nabesifazane. Ayaziwa ukuthi kwenzeka kaningi kangakanani kodwa kubonakala sengathi kunezibalo eziphakeme kubantu baseSpanishi.
Izimpawu
Ngaphandle kwezinye izimpawu ezibalulwe ekusungulweni, ezinye izimpawu ze-Jarcho-Levin syndrome zingabandakanya:
- Amathambo angalungile we-vertebrae (umgogodla), afana namathambo ahlanganisiwe
- Amathambo omgogodla angalungile enza ukuba umgogodla uphume ngaphandle ( kyphosis ), ngaphakathi (lordosis), noma eceleni ( scoliosis )
- Amathambo omzimba ongalungile kanye nemigqa engavamile enza i-torso encane futhi ibangele isiqu esifushane esicishe sifane
- Ezinye zezimbambo ziyahlanganiswa ndawonye kanti ezinye zihlukumezekile, zinikeza isifuba ukubonakala okunjenge-crab-like
- Intamo ifushane futhi inomkhawulo wokuhamba
- Izici zobuso ezihlukile kanye nokulahlekelwa okuncane okungaqondakali kungase kwenzeke ngezinye izikhathi
- Ukukhubazeka kokubeletha kungathinta isimiso somsangaphakathi esiyinhloko, izitho zangasese, nesistimu yokuzala, noma inhliziyo
- Isitho esifubeni esingalungile esincane kakhulu emaphashini wengane (ikakhulukazi njengoba amaphaphu ekhula) angabangela izifo eziphindaphindiwe nezimbi zamapayipi (isibhamu).
- Iminwe ye-webbed (syndactyly), ehlanganisiwe futhi enamathele (iminwe ye-camptodactyly) ivamile
- Ubuningi obubanzi, ibhuloho elibanzi elingaphansi, amaconsi ahamba phambili, amajwabu angenhla aphezulu, kanye ne-skull posterior enwetshiwe
- Ukuvinjwa kwesisu kungase kubangele isisu esiswini nesifuba ebusweni
- Amathambo angenakunqunywa, ama-genitalia angaphandle angaphandle, izibeletho ezimbili, ukuvulwa kwesilwane esivaliwe noma esingekho, noma i-artery eyodwa yomzimba kunezinye izimpawu ezingase zibe sobala
Ukuxilongwa
I-Jarcho-Levin syndrome ivame ukutholakala esaneni olusanda kuzalwa olusukela ekubukeni kwengane kanye nokungabi khona okukhona emgodleni, emuva nangesifuba. Ngezinye izikhathi ukuhlolwa kwe-ultrasound ngaphambi kokubeletha kungabonisa amathambo angalungile. Nakuba kuyaziwa ukuthi i-Jarcho-Levin syndrome ihlotshaniswa nokuguqulwa kwesakhi sofuzo se-DLL3, asikho isifo esithile esithile sokuthola i-genetic esitholakalayo sokuxilongwa.
Ukwelapha
Izinsana ezalwa ne-Jarcho-Levin syndrome zinenkinga yokuphefumula ngenxa yamabhokisi abo amancane, ahlukumezekile, ngakho-ke zijwayele ukugujwa kwezifo zokuphefumula ( isibhamu ).
Njengoba usana lusakhula, isifuba sincane kakhulu ukuze singene emaphashini akhulayo, futhi kunzima ingane ukuba isinde ngaphesheya kweminyaka engama-2. Ukwelashwa ngokuvamile kuvame ukwelashwa okujulile, kubandakanya ukwelashwa kwezifo zokuphefumula nokuhlinzwa kwethambo.
Imithombo:
Inhlangano Kazwelonke Yezinkinga Ezinzima. I-Jarcho Levin Syndrome.
Beine, O., J. Bolland, A. Verloes, FR Lebrun, J. Khamis, & Ch. I-Muller. "I-Spondylocostal dysostosis: Isifo esingavamile sofuzo." Rev Med Liege 59 (2004): 513-516.
Takikawa, K., N. Haga, T. Maruyama, A. Nakatomi, T. Kondoh, Y. Makia, A. Hata, H. Kawabata, & S. Ikegawa. "Sondeza futhi ugibe okungavamile nokuqina kwesipulylocostal dysostosis." Isiqephu 31 (2006): E192-197.