Ọrịa Apert

Ọrịa Apert bụ ọrịa mkpụrụ ndụ ihe nketa nke ihe jikọrọ ọkpụkpụ okpokoro isi na-emechi tupu oge nkịtị. Nke a na-emetụta ọdịdị nke isi na ihu. Childrenmụaka nwere ọrịa Apert na-enwe nrụrụ aka na ụkwụ.

Apert syndrome nwere ike gafere site na ezinụlọ (ketara eketa) dị ka ihe autosomal kasị edu. Nke a pụtara na ọ bụ naanị nne ma ọ bụ nna kwesịrị inyefe nwa ya ihe na-arịa ọrịa ahụ ka o nwee ọrịa ahụ.

Fọdụ ikpe nwere ike ịdapụta na-enweghị akụkọ ntolite ezinụlọ a maara.

Ọrịa Apert kpatara otu n'ime mgbanwe abụọ na FGFR2 mkpụrụ ndụ ihe nketa. Mkpụrụ ndụ ihe nketa a na-eme ka ụfọdụ okpokoro isi nke okpokoro isi na-emechi n'oge. A na-akpọ ọnọdụ a craniosynostosis.

Mgbaàmà gụnyere:

• Mmechi mbu nke sutures n'etiti ọkpụkpụ okpokoro isi, nke e kwuru site na ịnya ịnya na sutures (craniosynostosis)
• Ọrịa ntị ugboro ugboro
• Fusion ma ọ bụ webbing siri ike nke mkpịsị aka nke abụọ, nke atọ, na nke anọ, nke a na-akpọkarị "mitten hands"
• Ntị ntị
• Nnukwu ma ọ bụ oge na-emechi ntụpọ dị nro na okpokoro isi nwa
• Omume nwere ike, nwayọ nwayọ ọgụgụ isi (dịgasị iche site na mmadụ gaa na onye)
• Anya ama ama
• Siri ike n'okpuru mmepe nke midface
• Ọkpụkpụ (akụkụ) adịghị mma
• Ogologo mkpụmkpụ
• Webbing ma ọ bụ njikọta nke mkpịsị ụkwụ

Ọtụtụ ọrịa syndromes ndị ọzọ nwere ike ibute ụdị ọdịdị nke ihu na isi, mana etinyeghị aka dị ukwuu na njirimara aka na ụkwụ nke ọrịa Apert. Sydị nsogbu ndị a gụnyere:

• Ọrịa ọkwá nkà (kleeblattschadel, nrụrụ okpokoro isi cloverleaf)
• Crouzon ọrịa (craniofacial dysostosis)
• Ọrịa Pfeiffer
• Ọrịa Saethre-Chotzen

Onye nlekọta ahụike ga-eme nyocha anụ ahụ. A ga-eme x-ray, aka, na okpokoro isi. Ekwesịrị ịnwale ule mgbe niile.

Nnyocha nke mkpụrụ ndụ ihe nketa nwere ike ikwenye nchoputa nke ọrịa Apert.

Ọgwụgwọ nwere ịwa ahụ iji dozie uto ọkpụkpụ nke okpokoro isi, yana maka njikọ aka na mkpịsị ụkwụ. Childrenmụaka ndị nwere nsogbu a kwesịrị inyocha otu ndị ọpụrụiche craniofacial ịwa ahụ n'ụlọ ọgwụ ụmụaka.

Ekwesiri igakwuru ọkachamara na-anụ ihe ma enwere nsogbu ịnụ ihe.

’Smụaka Craniofacial Association: ccakids.org

Kpọọ onye na-eweta gị ma ọ bụrụ na ị nwere akụkọ gbasara ezinụlọ nke ọrịa Apert ma ọ bụ na ị chọpụta na okpokoro isi nwa gị anaghị eto eto.

Ndụmọdụ mkpụrụ ndụ ihe nketa nwere ike inyere gị aka ma ọ bụrụ na ị nwere ezinaụlọ nke nsogbu a na ị na-ezube ịtụrụ ime. Onye na-enye gị nwere ike ịnwale nwa gị maka ọrịa a n’oge afọ ime.

Acrocephalosyndactyly mmuta

• Syndactyly

Goldstein JA, Losee JE. Ọwa ịwa ahụ ụmụaka. Na: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli na Davis 'Atlas nke nyocha umuaka umuaka. Nke 7. Philadelphia, PA: Elsevier; 2018: isi 23.

Kinsman SL, Johnston MV. Congenital anomalies nke usoro ụjọ usoro. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 609.

Mauck BM, Jobe MT. Congenital anomalies nke aka. Na: Azar FM, Beaty JH, Canale ST, eds. Belllọ Ọrụ Na-ahụ Maka Ọkpụkpụ Campbell. Nke 13. Philadelphia, PA: Elsevier; 2017: isi nke 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR metụtara syndromes craniosynostosis. GeneRelee. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Emelitere June 7, 2011. Nabata July 31, 2019.