ʻO Treacher Collins maʻi

ʻO Treacher Collins Syndrome kahi ʻano kūlohelohe e alakaʻi i nā pilikia me ke ʻano o ka maka. ʻAʻole hoʻoili ʻia ka hapa nui o nā hihia ma o nā ʻohana.

Nā loli i kekahi o nā ʻaoʻao ʻekolu, TCOF1, POLR1C, a i ʻole POLR1D, hiki ke alakaʻi iā Treacher Collins Syndrome. Hiki ke hoʻoili ʻia ke ʻano i loko o nā ʻohana (hoʻoilina). Eia nō naʻe, i ka hapanui o ka manawa, ʻaʻohe lālā ʻohana ʻē aʻe i hoʻopili ʻia.

Hiki ke loli ke ʻano o kēia ʻano i nā hanauna a i kekahi hanauna a mai kekahi kanaka i kekahi kanaka.

Pākuʻi ʻia paha nā ʻōuli:

• He ʻokoʻa a ʻaneʻane nalo loa paha ka ʻāpana o nā pepeiao
• Lohe hoʻolohe
• Nuku liʻiliʻi loa (micrognathia)
• Waha nui loa
• E kīnā i ka eyelid lalo (coloboma)
• ʻO ka lauoho lauoho i hiki i nā papalina
• Pāpā palu

E hōʻike pinepine ke keiki i ka ʻike maʻamau. Hōʻike kahi hōʻike o ka pēpē i nā ʻano pilikia like ʻole, me:

• ʻAno maka maka ʻole
• Nā papalina papalina
• Pāleʻa a lehelehe paha
• Iwi ʻuʻuku
• Nā pepeiao hoʻohaʻahaʻa
• Nā pepeiao i hana maoli ʻia
• Kanal pepeiao maʻamau
• Lohe hoʻolohe
• Nā kīnā o ka maka (coloboma i hohola i loko o ka uhi lalo)
• Hoʻoemi i nā maka maka maka ma ka lihilihi maka haʻahaʻa

Hiki i nā hoʻāʻo genetic ke kōkua e ʻike i nā loli i pili i kēia ʻano.

Mālama ʻia ka nalo lohe ʻana i mea e maikaʻi ai ka hana ma ke kula.

ʻO ka ukali ʻia e kahi kauka lula he mea nui ia, no ka mea, pono paha i nā keiki me kēia ʻano ke kaʻina o nā hana e hoʻoponopono i nā hānau hānau. Hiki i ke ʻoki lula ke hoʻoponopono i ka auwae e iho ana a me nā hoʻololi ʻē aʻe i ka hanana alo.

Nā maka: ka National Craniofacial Association - www.faces-cranio.org/

ʻO nā keiki me kēia maʻi e ulu maʻamau e lilo i poʻe mākua o ka ʻike maʻamau.

Komo pū nā pilikia:

• Pīʻai hānai
• Pilikia ʻōlelo
• Nā pilikia kamaʻilio
• Nā pilikia ʻike

ʻIke pinepine kēia ʻano i ka wā hānau.

Hiki i nā ʻōlelo aʻoaʻo genetic ke kōkua i ka ʻohana e hoʻomaopopo i ke ʻano a pehea e mālama ai i ke kanaka.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no kēia maʻi maʻi a makemake e hāpai.

Dostostosis Mandibulofacial; ʻO Treacher Collins-Franceschetti maʻi maʻi

ʻO Dhar V. Syndromes me nā hōʻike waha. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 337.

ʻO Katsanis SH, ʻo Jabs EW. ʻO Treacher Collins maʻi. Nā Manaʻo GeneReview. 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Hoʻohou ʻia Kepakemapa 27, 2018. Loaʻa iā Iulai 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. ʻO Treacher Collins Syndrome: ka loiloi a me ka mālama ʻana. I: Fonseca RJ, hoʻoponopono. ʻOki kino waha a me Maxillofacial. ʻEkolu huaʻōlelo. St Louis, MO: Elsevier; 2018: chap 40.