Tus Sau: William Ramirez
Hnub Kev Tsim: 15 Lub Cuaj Hli Ntuj 2021
Hloov Hnub: 13 Lub Kaum Ib Hli Ntuj 2024
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Treacher Collins No Reason to Hide for Ill. Girl
Daim Duab: Treacher Collins No Reason to Hide for Ill. Girl

Treacher Collins syndrome yog caj ces mob uas ua rau muaj teeb meem nrog cov qauv ntawm lub ntsej muag. Feem ntau tsis kis dhau los ntawm cov tsev neeg.

Hloov pauv ib qho ntawm peb lub noob, TCOF1, POLR1C, lossis POLR1D, tuaj yeem ua rau Treacher Collins syndrome. Tus mob yuav kis tau mus rau cov tsev neeg (niam txiv caj ces). Txawm li cas los xij, feem ntau, tsis muaj lwm tus neeg hauv tsev neeg cuam tshuam.

Tus mob no yuav txawv txav mus rau ib tiam dhau ib tiam thiab ib tus neeg mus rau lwm tus.

Cov tsos mob tuaj yeem suav nrog:

  • Sab nraud ntawm lub pob ntseg yog qhov txawv txav lossis yuav luag ploj
  • Hnov tsis hnov ​​lus
  • Tsawg lub puab tsaig me me (micrognathia)
  • Lub qhov ncauj loj heev
  • Muaj mob hauv qab tawv muag daj (coloboma)
  • Tawv plaub hau uas ncav rau sab plhu
  • Ciaj xim ntawm lub palate

Tus me nyuam feem ntau yuav qhia kev txawj ntse ib txwm muaj. Kev kuaj mob ntawm cov menyuam yaus yuav pom ntau yam teeb meem, suav nrog:

  • Qhov muag tsis zoo
  • Ca cheekbones
  • Cov xim ntawm lub ntsej muag lossis daim di ncauj
  • Me puab tsaig
  • Tsawg pob ntseg pob ntseg
  • Ruaj ntseg pob ntseg tsim
  • Txawv lub pob ntseg pob ntseg
  • Hnov tsis hnov ​​lus
  • Muaj kev tsis zoo hauv lub qhov muag (coloboma uas txuas mus rau sab hauv qab)
  • Txo cov plaub muag qis dua ntawm daim tawv muag qis

Kev kuaj keeb kwm tuaj yeem pab txheeb xyuas cov kev hloov hauv noob neej uas txuas rau tus mob no.


Kev tsis hnov ​​lus yog kho kom ua tau zoo hauv tsev kawm.

Ua raws li cov kws phais neeg yas yog qhov tseem ceeb heev, vim tias cov menyuam yaus uas muaj tus mob no yuav xav tau kev ua haujlwm zoo los kho kev xeeb menyuam. Cov yas phais tuaj yeem kho kho lub puab tsaig ntawm puab tsaig thiab lwm yam kev hloov ntawm cov qauv ntsej muag.

QHOV TSEEB: Lub Koom Tes Kev Koom Tes Hauv Lub Tebchaws - www.faces-cranio.org/

Cov menyuam yaus uas muaj tus kabmob no feem ntau loj hlob los ua haujlwm rau cov neeg laus ntawm kev txawj ntse.

Teeb meem yuav suav nrog:

  • Noj pub nyuaj
  • Hais lus nyuaj
  • Teeb meem sib txuas lus
  • Cov teeb meem tsis pom kev

Tus mob no feem ntau pom thaum yug.

Kev pab tswv yim rau caj ces yuav pab cov tsev neeg to taub txog tus mob thiab yuav tu tus neeg li cas.

Kev tawm tswv yim rau caj ces yog pom zoo yog tias koj muaj tsev neeg muaj keeb kwm ntawm tus mob no thiab xav cev xeeb tub.

Mandibulofacial dysostosis; Treacher Collins-Franceschetti mob siab

Dhar V. Syndromes nrog qhov ncauj tawm. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 337.


Katsanis SH, Jabs EW. Mob mob Treacher Collins. GeneReviewsCov. Xyoo 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Hloov tshiab Cuaj hlis 27, 2018. Nkag mus Lub Xya Hli 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins Syndrome: kev tshuaj xyuas thiab kho mob. Hauv: Fonseca RJ, ed. Kev phais mob ntawm lub qhov ncauj thiab MaxillofacialCov. 3lawm ed. St Louis, MO: Elsevier; 2018: chap 40.

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