Isifo sikaTreacher Collins

I-Treacher Collins syndrome yimeko yemfuza ekhokelela kwiingxaki kubume bobuso. Uninzi lweziganeko azidluliswanga kwiintsapho.

Utshintsho kwisinye sezifo ezintathu, TCOF1, IPOLR1C, okanye IPOLR1D, kunokukhokelela kwisifo sikaTreacher Collins. Le meko inokudluliselwa kwiintsapho (ezizuzwe njengelifa). Nangona kunjalo, uninzi lwamaxesha, alikho elinye ilungu losapho elichaphazelekayo.

Le meko inokwahluka ngokobunzima kwizizukulwana ngezizukulwana nakumntu nomntu.

Iimpawu zingabandakanya:

• Inxalenye engaphandle yeendlebe ayiqhelekanga okanye iphantse yalahleka ngokupheleleyo
• Ukuphulukana nokuva
• Umhlathi omncinci kakhulu (micrognathia)
• Umlomo omkhulu kakhulu
• Isiphene kwijwabu leso elisezantsi (coloboma)
• Iinwele ze-Scalp ezifikelela ezidleleni
• Inkalakahla ecwengileyo

Umntwana uhlala ebonisa ubukrelekrele obuqhelekileyo. Uvavanyo losana lunokubonisa iingxaki ezahlukeneyo, kubandakanya:

• Imilo engaqhelekanga yamehlo
• Izidlele ezisicaba
• Inkalakahla ecwengileyo okanye umlomo
• Umhlathi omncinci
• Iindlebe ezisezantsi
• Iindlebe ezingaqhelekanga
• Umsele wendlebe ongaqhelekanga
• Ukuphulukana nokuva
• Ukusilela kwiso (coloboma efikelela kwisiciko esisezantsi)
• Ukwehla kweenkophe kwinkophe esezantsi

Uvavanyo lweMfuza lunokunceda ekuchongeni utshintsho olwenziwe kule meko.

Ukuphulukana nokuva kunyangwa ukuqinisekisa ukusebenza kakuhle esikolweni.

Ukulandelwa ngugqirha weplastikhi kubaluleke kakhulu, kuba abantwana abanale meko banokufuna uthotho loqhaqho ukulungisa iziphene zokuzalwa. Utyando lweplastikhi lungalungisa isilevu esihlayo kunye nolunye utshintsho kubume bobuso.

IINKCUKACHA: Umbutho weSizwe weCranofacial Association - www.faces-cranio.org/

Abantwana abanesi sifo bakhula babe ngabantu abadala abasebenzayo kubukrelekrele obuqhelekileyo.

Iingxaki zinokubandakanya:

• Ukutya kunzima
• Ukuthetha ubunzima
• Iingxaki zonxibelelwano
• Iingxaki zombono

Le meko idla ngokubonakala xa kuzalwa.

Iingcebiso ngemfuzo zinokunceda iintsapho ziqonde imeko kunye nendlela yokukhathalela umntu.

Ukucebisa ngemfuza kuyacetyiswa ukuba unembali yosapho yesi sifo kwaye unqwenela ukukhulelwa.

I-Mandibulofacial dysostosis; Ingcwangu yeCollins-Franceschetti syndrome

Dhar V. Syndromes ngokubonakaliswa komlomo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 337.

IKatsanis SH, iJabs EW. Ingcwangu yeCollins syndrome. Uphononongo lweGene. Ngo-2012: 8. IINKCUKACHA: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Ukuhlaziywa kweSeptemba 27, 2018. Ifikeleleke ngoJulayi 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. I-Treacher Collins syndrome: uvavanyo kunye nonyango. Ku: Fonseca RJ, ed. Utyando lomlomo kunye neMaxillofacial. Ngomhla wesi-3. ISt Louis, MO: Elsevier; I-2018: isahluko 40.