Letšoao la Treacher Collins

Treacher Collins syndrome ke lefutso le lebisang mathateng ka sebopeho sa sefahleho. Maemo a mangata ha a fetisoe ke malapa.

Liphetoho ho e 'ngoe ea liphatsa tsa lefutso, TCOF1, POLR1C, kapa POLR1D, e ka lebisa ho lefu la Treacher Collins. Boemo bona bo ka fetisoa ka malapa (a futsitsoeng). Leha ho le joalo, boholo ba nako, ha ho setho se seng sa lelapa se amehileng.

Boemo bona bo ka fapana ka bongata ho tloha molokong o mong ho ea ho o mong le ho tloha ho motho ho ea ho motho.

Matšoao a ka kenyelletsa:

• Karolo e kantle ea litsebe ha e ea tloaeleha kapa e batla e le sieo ka botlalo
• Ho lahleheloa ke kutlo
• Mohlahare o monyane haholo (micrognathia)
• Molomo o moholo haholo
• Ho fokola ka leihlo le ka tlaase (coloboma)
• Moriri wa letlalo la hlooho o fihlang marameng
• Molomo o petsohileng

Hangata ngoana o tla bontša bohlale bo tloaelehileng. Ho hlahlojoa ha lesea ho ka senola mathata a fapaneng, ho kenyeletsoa:

• Sebopeho se sa tloaelehang sa mahlo
• Marama a sephara
• Molomo o petsohileng kapa molomo
• Mohlahare o monyane
• Litsebe tse tlase
• Litsebe tse entsoeng ka mokhoa o sa tloaelehang
• Kankere ea tsebe e sa tloaelehang
• Ho lahleheloa ke kutlo
• Mefokolo e ka leihlong (coloboma e fetelang sekoahelong se ka tlase)
• Ho fokotseha ha li-eyelashes ka leihlo le tlaase

Liteko tsa lefutso li ka thusa ho khetholla liphetoho tsa liphatsa tsa lefutso tse amanang le boemo bona.

Tahlehelo ea kutlo e ea phekoloa ho netefatsa ts'ebetso e ntle sekolong.

Ho lateloa ke ngaka e buoang ea polasetiki ho bohlokoa haholo, hobane bana ba nang le boemo bona ba ka hloka letoto la liopereishene ho lokisa likoli. Ho buuoa ka polasetiki ho ka lokisa sefahleho se fokotsehang le liphetoho tse ling ka sebopeho sa sefahleho.

LITLHAHISO: Mokhatlo oa Naha oa Craniofacial - www.faces-cranio.org/

Bana ba nang le lefu lena hangata ba hola ho ba batho ba baholo ba sebetsang ba bohlale bo tloaelehileng.

Mathata a ka kenyelletsa:

• Bothata ba ho fepa
• Ho bua ka thata
• Mathata a puisano
• Mathata a pono

Boemo bona hangata bo bonoa nakong ea tsoalo.

Tlhabollo ea lefutso e ka thusa malapa ho utloisisa boemo le mokhoa oa ho hlokomela motho eo.

Ho khothaletsoa tlhabollo ea lefutso haeba o na le nalane ea lelapa ea lefu lena mme o lakatsa ho ima.

Mandibulofacial dysostosis; Letšoao la Treacher Collins-Franceschetti

Dhar V. Syndromes ka liponahatso tsa molomo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 337.

Katsanis SH, Jabs EW. Letšoao la Treacher Collins. Litlhahlobo. 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. E ntlafalitsoe ka Loetse 27, 2018. E fihlile ka Phupu 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: tlhahlobo le kalafo. Ka: Fonseca RJ, ed. Ho Buuoa ka Molomo le Maxillofacial. 3rd ed. St Louis, MO: Elsevier; 2018: khaolo ea 40.