Ciwan yaudara Collins

Treising Collins ciwo wani yanayi ne na kwayar halitta wanda ke haifar da matsaloli game da tsarin fuska. Yawancin lokuta ba a yanke su ta hanyar dangi.

Canje-canje ga ɗayan kwayoyin guda uku, TCOF1, POLR1C, ko POLR1D, na iya haifar da cututtukan Treacher Collins. Yanayin zai iya wucewa ta wurin dangi (gado). Koyaya, mafi yawan lokuta, babu wani dan uwan ​​da abin ya shafa.

Wannan yanayin na iya bambanta da tsananin daga tsara zuwa tsara da kuma daga mutum zuwa mutum.

Kwayar cutar na iya haɗawa da:

• Partangaren waje na kunnuwan ba hauka bane ko kusan sun ɓace gaba ɗaya
• Rashin ji
• Smallananan ƙananan muƙamuƙi (micrognathia)
• Babban baki
• Launi a cikin ƙananan fatar ido (coloboma)
• Gashin kai wanda ya kai ga kunci
• Ftaƙƙar magana

Yaron mafi sau da yawa zai nuna hankali na yau da kullun. Gwajin jariri na iya bayyana matsaloli iri-iri, gami da:

• Siffar ido mara kyau
• Flat cheekbones
• Tsagaggen bakin ko leɓe
• Jawananan muƙamuƙi
• -Ananan kunnuwa
• Kunnuwa mara kyau
• Maganin kunne mara kyau
• Rashin ji
• Launi a cikin ido (coloboma wanda ya faɗaɗa zuwa cikin murfin ƙarami)
• Rage gashin ido a kasan fatar ido

Gwajin kwayoyin halitta na iya taimakawa gano canjin canjin da aka danganta da wannan yanayin.

Ana magance raunin ji don tabbatar da kyakkyawan aiki a makaranta.

Kasancewa daga likitan filastik yana da matukar mahimmanci, saboda yara masu wannan yanayin na iya buƙatar jerin ayyuka don gyara lahani na haihuwa. Yin aikin filastik na iya gyara raunin baya da sauran canje-canje a cikin tsarin fuska.

FUSO: Cungiyar ranasa ta --asa - www.faces-cranio.org/

Yaran da ke fama da wannan ciwo galibi suna girma don zama manya masu hankali na al'ada.

Matsaloli na iya haɗawa da:

• Wahalar ciyarwa
• Maganar wahala
• Matsalar sadarwa
• Matsalar hangen nesa

Wannan yanayin galibi ana ganin sa yayin haihuwa.

Shawarwarin kwayoyin halitta na iya taimaka wa iyalai su fahimci yanayin da yadda za su kula da mutumin.

Ana ba da shawarar ba da shawara kan kwayar halitta idan kana da tarihin iyali na wannan cutar kuma kana son yin ciki.

Mandibulofacial dysostosis; Cin amana Collins-Franceschetti ciwo

Dhar V. Syndromes tare da bayyanannun maganganu. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 337.

Katsanis SH, Jabs EW. Ciwan yaudara Collins. GeneReviews. 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. An sabunta Satumba 27, 2018. Iso zuwa Yuli 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Ciwon yaudara Collins ciwo: kimantawa da magani. A cikin: Fonseca RJ, ed. Yin tiyata ta baka da Maxillofacial. 3rd ed. St Louis, MO: Elsevier; 2018: babi na 40.