I-Treacher Collins syndrome

I-Treacher Collins syndrome yisimo sezofuzo esiholela ezinkingeni ngesakhiwo sobuso. Amacala amaningi awadluliswa ngemindeni.

Izinguquko kwesinye sezakhi zofuzo ezintathu, TCOF1, I-POLR1C, noma I-POLR1D, kungaholela ku-Treacher Collins syndrome. Isimo singadluliselwa emindenini (ezuzwe njengefa). Kodwa-ke, esikhathini esiningi, alikho elinye ilungu lomndeni elithintekile.

Lesi simo singahluka ngobukhulu ezizukulwaneni ngezizukulwane nakumuntu nomuntu.

Izimpawu zingafaka:

• Ingxenye yangaphandle yezindlebe ayijwayelekile noma icishe ilahleke ngokuphelele
• Ukulahlekelwa ukuzwa
• Umhlathi omncane kakhulu (micrognathia)
• Umlomo omkhulu kakhulu
• Iphutha kujwabu leso eliphansi (coloboma)
• Izinwele zekhanda elifinyelela ezihlathini
• Ulwanga oluhlanzekile

Ingane ivame ukukhombisa ubuhlakani obujwayelekile. Ukuhlolwa kosana kungaveza izinkinga ezahlukahlukene, kufaka phakathi:

• Ukuma kwamehlo okungajwayelekile
• Amathanga alele phansi
• Ulwanga oluhlanzekile noma udebe
• Umhlathi omncane
• Izindlebe eziphansi
• Izindlebe ezakhiwe ngokungajwayelekile
• Umsele wendlebe ongajwayelekile
• Ukulahlekelwa ukuzwa
• Amaphutha esweni (i-coloboma efinyelela esembozweni esiphansi)
• Ukwehla kwezinkophe kujwabu leso elingezansi

Ukuhlolwa kofuzo kungasiza ekuboneni izinguquko zofuzo ezixhunyaniswe nalesi simo.

Ukulahlekelwa kokuzwa kuyelashwa ukuqinisekisa ukusebenza kangcono esikoleni.

Ukulandelwa ngudokotela ohlinzayo wepulasitiki kubaluleke kakhulu, ngoba izingane ezinalesi simo zingadinga uchungechunge lokuhlinzwa ukulungisa ukukhubazeka kokuzalwa. Ukuhlinzwa kwepulasitiki kungalungisa isilevu esixegayo kanye nezinye izinguquko esakhiweni sobuso.

IZIBONELELO: Inhlangano Kazwelonke Ye-Craniofacial - www.faces-cranio.org/

Izingane ezinalesi sifo zivame ukukhula zibe ngabantu abadala abasebenza ngokuhlakanipha okuvamile.

Izinkinga zingafaka:

• Ukondla ubunzima
• Ukukhuluma kanzima
• Izinkinga zokuxhumana
• Izinkinga zombono

Lesi simo sivame ukubonwa lapho kuzalwa.

Ukwelulekwa ngofuzo kungasiza imindeni ukuthi iqonde isimo nokuthi ingamnakekela kanjani lowo muntu.

Ukwelulekwa ngofuzo kuyanconywa uma unomlando womndeni walesi sifo futhi ufisa ukukhulelwa.

I-Mandibulofacial dysostosis; UTheracher Collins-Franceschetti syndrome

UDhar V. Syndromes ngokubonakaliswa komlomo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 337.

IKatsanis SH, iJabs EW. I-Treacher Collins syndrome. Ukubuyekezwa kweGeneReviews. 2012: 8. I-PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Kubuyekezwe uSepthemba 27, 2018. Kufinyelelwe ngoJulayi 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. I-Treacher Collins syndrome: ukuhlolwa nokwelashwa. Ku: Fonseca RJ, ed. Ukuhlinzwa ngomlomo nangamaMaxillofacial. 3rd ed. ISt Louis, MO: Elsevier; 2018: isahluko 40.