Treacher Collins chirwere

Treacher Collins syndrome ndeye genetiki mamiriro ayo anotungamira kumatambudziko nemaitiro echiso. Mhosva zhinji hadzina kupfuudzwa kuburikidza nemhuri.

Shanduko kune rimwe remhando nhatu, TCOF1, POLR1C, kana POLR1D, inogona kutungamira kuna Treacher Collins syndrome. Mamiriro acho anogona kupfuudzwa kuburikidza nemhuri (nhaka). Zvisinei, kazhinji yenguva, hapana imwe nhengo yemhuri yakabatwa.

Aya mamiriro anogona kusiyana mukuomarara kubva kuchizvarwa kusvika kuchizvarwa uye kubva pamunhu kuenda kumunhu.

Zviratidzo zvinogona kusanganisira:

• Chikamu chekunze che nzeve hachina kujairika kana kupotsa zvachose
• Kunzwa kurasikirwa
• Shaya diki kwazvo (micrognathia)
• Yakakura kwazvo muromo
• Kukanganisa muzasi kweziso (coloboma)
• Bvudzi romusoro rinosvika kumatama
• Yakachena muromo

Mwana kazhinji anoratidza zvakajairika ungwaru. Kuongororwa kwemucheche kunogona kuratidza matambudziko akasiyana siyana, anosanganisira:

• Chimiro chemaziso chisina kujairika
• Flat cheekbones
• Cleft palate kana muromo
• Shaya diki
• Nzeve-dzakadzika nzeve
• Nzeve dzisina kujairika
• Isina kujairika nzeve canal
• Kunzwa kurasikirwa
• Kukanganisa kuri muziso (coloboma inosvika muchivharo chepasi)
• Yakadzikira eyelashes pazasi eyelid

Mageneti bvunzo dzinogona kubatsira kuona shanduko yemagene yakabatana nemamiriro aya.

Kunzwa kurasikirwa kunorapwa kuona kuita kuri nani muchikoro.

Kuteverwa nachiremba wepurasitiki kwakakosha, nekuti vana vane chirwere ichi vangangoda mashandiro ekugadzirisa kuremara kwekuzvarwa. Kuvhiya kwepurasitiki kunogona kugadzirisa chinodzikira chirebvu uye zvimwe shanduko muchimiro chechiso.

MASHOKO: Iyo National Craniofacial Association - www.faces-cranio.org/

Vana vane chirwere ichi vanowanzo kukura kuti vave vakuru vanoshanda venguva dzose njere.

Zvinetso zvinogona kusanganisira:

• Kudyisa kunetseka
• Kutaura kunetsa
• Zvinetso zvekutaurirana
• Matambudziko ekuona

Aya mamiriro anowanzoonekwa pakuzvarwa.

Kurairidzwa kwemageneti kunogona kubatsira mhuri kunzwisisa mamiriro uye nzira yekuchengeta munhu wacho.

Genetic counselling inokurudzirwa kana iwe uine nhoroondo yemhuri yeiyi syndrome uye uchida kuve nepamuviri.

Mandibulofacial dysostosis; Treacher Collins-Franceschetti chirwere

Dhar V. Syndromes ane kuratidzwa kwemuromo. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 337.

Katsanis SH, Jabs EW. Treacher Collins chirwere. GeneReviews. 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Yakagadziridzwa Gunyana 27, 2018. Yakasvika muna Chikunguru 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: kuongorora uye kurapwa. Mune: Fonseca RJ, ed. Oral uye Maxillofacial Kuvhiya. 3rd ed. St Louis, MO: Elsevier; 2018: chits. 40.