I-Apert syndrome

I-Apert syndrome yisifo sofuzo lapho ukuhlangana phakathi kwamathambo ogebhezi kusondela ngokushesha kunokujwayelekile. Lokhu kuthinta ukuma kwekhanda nobuso. Izingane ezine-Apert syndrome zivame ukuba nokukhubazeka kwezandla nezinyawo.

I-Apert syndrome ingadluliselwa emindenini (ezuzwe njengefa) njengesici esivelele se-autosomal. Lokhu kusho ukuthi ngumzali oyedwa kuphela odinga ukudlulisa isakhi sofuzo esingalungile ukuze ingane ibe nalesi simo.

Amanye amacala angenzeka ngaphandle komlando womndeni owaziwayo.

I-Apert syndrome ibangelwa olunye lwezinguquko ezimbili kufayela le- FGFR2 isakhi sofuzo. Lokhu kukhubazeka kwezakhi zofuzo kubangela ukuthi eminye imisipha yamathambo ogebhezi ivale kusenesikhathi. Lesi simo sibizwa nge-craniosynostosis.

Izimpawu zifaka:

• Ukuvalwa kokuqala kwemisipha phakathi kwamathambo ogebhezi, okuphawulwe ngokugobeka ngemisipha (craniosynostosis)
• Ukutheleleka njalo kwezindlebe
• Ukuhlanganiswa noma ukugoqwa okunzima kweminwe yesibili, yesithathu, neyesine, okuvame ukubizwa ngokuthi "izandla ezinamahloni"
• Ukulahlekelwa ukuzwa
• Indawo ethambile enkulu noma evala sekwedlule isikhathi ekhakhayini lwengane
• Kungenzeka, ukukhula kancane kwengqondo (kuyahluka kuye ngomuntu)
• Amehlo avelele noma aqhakazile
• Ukukhula okungaphansi kokuthuthuka kwe-midface
• Ukukhubazeka kwamathambo (isitho)
• Ukuphakama okufushane
• Ukufakwa kwewebhu noma ukuhlanganiswa kwezinzwane

Amanye ama-syndromes amaningi angaholela ekubukekeni okufanayo kobuso nenhloko, kepha ungafaki izici ezinzima zezandla nezinyawo ze-Apert syndrome. Lawa ma-syndromes afanayo afaka:

• I-Carpenter syndrome (kleeblattschadel, i-cloverleaf skull deformity)
• Isifo seCrouzon (i-craniofacial dysostosis)
• I-Pfeiffer syndrome
• Isifo se-Saethre-Chotzen

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Izandla, unyawo, nogebhezi lwekhanda kuzokwenziwa. Ukuhlolwa kokuzwa kufanele kwenziwe njalo.

Ukuhlolwa kofuzo kungaqinisekisa ukuxilongwa kwe-Apert syndrome.

Ukwelashwa kuqukethe ukuhlinzwa ukulungisa ukukhula kwamathambo okungavamile kogebhezi, kanye nokuhlangana kweminwe nezinzwane. Izingane ezinalesi sifo kufanele zihlolwe yithimba elikhethekile lokuhlinzwa kwe-craniofacial esikhungweni sezokwelapha sezingane.

Kufanele kuboniswane nodokotela wezindlebe uma kunezinkinga zokuzwa.

Inhlangano Yezingane ye-Craniofacial Association: ccakids.org

Shayela umhlinzeki wakho uma unomlando womndeni we-Apert syndrome noma ubona ukuthi ugebhezi lwengane yakho aluthuthuki ngokujwayelekile.

Ukwelulekwa ngofuzo kungasiza uma unomlando womndeni walesi sifo futhi uhlela ukukhulelwa. Umhlinzeki wakho angahlola ingane yakho ngalesi sifo ngesikhathi sokukhulelwa.

I-Acrocephalosyndactyly

• Ngokuvumelana

UGoldstein JA, uLosee JE. Ukuhlinzwa kwepulasitiki yezingane. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 23.

UKinsman SL, uJohnston MV. Okuzenzakalelayo kokuzalwa kwesistimu yezinzwa emaphakathi. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 609.

UMauck BM, uJobe MT. Okuzenzakalelayo kokuzalwa kwesandla. Ku: Azar FM, Beaty JH, Kanale ST, ama-eds. I-Operational Orthopedics yaseCampbell. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2017: isahluko 79.

URobin NH, uFalk MJ, uHaldeman-Englert CR. I-craniosynostosis syndromes ehlobene ne-FGFR. Ukubuyekezwa kweGeneReviews. 2011: 11. I-PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Kubuyekezwe ngoJuni 7, 2011. Kufinyelelwe ngoJulayi 31, 2019.