Apert Syndrome

ʻO Apert Syndrome kahi maʻi maʻi a kahi mau kaola ma waena o nā iwi iwi i pili mua ma mua o ka maʻamau. Hoʻopili kēia i ke ʻano o ke poʻo a me ka maka. ʻO nā keiki me ka Apert syndrome he mau deformities kekahi o nā lima a me nā wāwae pū kekahi.

Hiki ke hoʻoiho ʻia ʻo Apert Syndrome ma o nā ʻohana (hoʻoilina) ma ke ʻano he mana autosomal. ʻO ke kumu o kēia hoʻokahi makua e pono e hele i ka ʻaoʻao hewa no kahi keiki e loaʻa ai ke ʻano.

Kū paha kekahi mau hihia me ka ʻike ʻole ʻia o ka mōʻaukala ʻohana.

Hoʻokumu ʻia ʻo Apert Syndrome e kekahi o nā hoʻololi ʻelua i ka FGFR2 ʻāpana ʻO kēia kīnā kīnā ke kumu e pani i kekahi o nā sutures iwi o ka iwi poʻo i ka wanaʻao. Kapa ʻia kēia ʻano ʻo craniosynostosis.

ʻO nā hōʻailona me:

• ʻO ka pani mua ʻana o nā sutures ma waena o nā iwi o ka iwi poʻo, i ʻike ʻia e ka huki ʻana me nā sutures (craniosynostosis)
• ʻO nā maʻi pepeiao pinepine
• Hoʻohui a i ʻole pūnaewele pūnaewele koʻikoʻi o ka manamana lima 2, 3, a me 4, i kapa ʻia he "mau lima lima lima"
• Lohe hoʻolohe
• ʻO kahi kiko palupalu a pani hope paha ma ka iwi poʻo o pēpē
• Hiki, hoʻolālā lohi lohi (ʻokoʻa i kēlā me kēia kanaka)
• Kahi maka hoʻolaha a kūpuʻu paha
• Ma lalo o ka hoʻomohala ʻana o ka midface
• Nā iwi kino (limb) abnormalities
• Kiʻekiʻena kiʻekiʻe
• Ka pūnaewele pūnaewele a hoʻohui paha o nā manamana wāwae

Hiki i kekahi mau syndrome ʻē aʻe ke alakaʻi i kahi helehelena like o ka maka a me ke poʻo, akā ʻaʻole hoʻokomo i nā hiʻohiʻona koʻikoʻi o ka lima a me ka wāwae o ka Apert Syndrome. Loaʻa kēia mau syndrome like:

• Carpenter Syndrome (kleeblattschadel, dexity poʻo poʻo poʻo cloverleaf)
• ʻO Crouzon maʻi (craniofacial dysostosis)
• Pfeiffer maʻi maʻi
• Ka maʻi maʻi Saethre-Chotzen

E hana ka mea mālama ola i kahi hoʻokolohua kino. E hana ʻia nā x-ray lima, wāwae, a me nā iwi poʻo. Pono e hana mau i nā hoʻolohe hoʻolohe ʻana.

Hiki i nā hoʻokolohua genetic ke hōʻoia i ka hōʻailona o ka Apert Syndrome.

ʻO ka hoʻomaʻamaʻa ʻana he ʻoki ia e hoʻoponopono ai i ka ulu iwi iwi kino ʻole o ka iwi poʻo, a no ka hoʻopili ʻana o nā manamana lima a me nā manamana wāwae. ʻO nā keiki me kēia maʻi e pono e nānā ʻia e kahi hui ʻoki lāʻau craniofacial kūikawā ma kahi keʻena olakino keiki.

Pono e nīnau aku i ka loea no ka hoʻolohe ʻana inā he mau pilikia ka lohe.

Ke Keiki Craniofacial Association: ccakids.org

Kāhea i kāu mea hāʻawi inā loaʻa iā ʻoe ka moʻolelo ʻohana o ka Apert syndrome a i ʻole ʻike ʻoe ʻaʻole e ulu maʻamau ka iwi poʻo o kāu pēpē.

Kōkua paha ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no kēia maʻi a ke hoʻolālā nei ʻoe e hāpai. Hiki i kāu mea hāʻawi ke hoʻāʻo i kāu pēpē no kēia maʻi i ka wā hāpai.

Acrocephalosyndactyly

• Syndactyly

ʻO Goldstein JA, Losee JE. ʻOki kino Pediatric. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 23.

Kinsman SL, Johnston MV. ʻO nā anomalies kūlohelohe o ka ʻōnaehana makaʻu waena. 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 609.

Mauck BM, Jobe MT. ʻO nā anomalies congenital o ka lima. I: Azar FM, Beaty JH, Canale ST, hua. ʻO Campbell's Operative Orthopedics. 13th ed. Piladelapia, PA: Elsevier; 2017: chap 79.

ʻO Robin NH, ʻo Falk MJ, ʻo Haldeman-Englert CR. Nā syndrome craniosynostosis e pili ana iā FGFR. Nā Manaʻo GeneReview. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Hoʻohou ʻia Iune 7, 2011. Loaʻa iā Iulai 31, 2019.