Lefu la Apert

Apert syndrome ke lefu la liphatsa tsa lefutso leo lipakeng tsa masapo a lehata le koalang pejana ho tloaelehileng. Sena se ama sebopeho sa hlooho le sefahleho. Bana ba nang le lefu la Apert hangata ba na le bofokoli ba matsoho le maoto hape.

Lefu la Apert le ka fetisoa ka malapa (a futsitsoeng) e le tšobotsi e ka sehloohong ea li-autosomal. Sena se bolela hore ke motsoali a le mong feela ea hlokang ho fetisetsa lefutso le fosahetseng bakeng sa ngoana hore a be le boemo boo.

Maemo a mang a ka etsahala ntle le nalane e tsebahalang ea lelapa.

Apert syndrome e bakoa ke e 'ngoe ea liphetoho tse peli ho EA-2-FGFR2 liphatsa tsa lefutso. Bothata bona ba lefutso bo etsa hore masapo a mang a lehata a koalehe kapele haholo. Boemo bona bo bitsoa craniosynostosis.

Matšoao a kenyelletsa:

• Ho koaloa ha li-suture lipakeng tsa masapo a lehata, ho tsejoang ka ho palama sutures (craniosynostosis)
• Ho tšoaetsoa khafetsa litsebeng
• Fusion kapa webbing e matla ea menoana ea bobeli, ea boraro le ea bone, e atisang ho bitsoa "matsoho a thata"
• Ho lahleheloa ke kutlo
• Sebaka se bonojana kapa se koalang hamonate lehateng la lesea
• Khōlo e ka bang teng butle ea kelello (ea fapana ho ea ka motho)
• Mahlo a hlaheletseng kapa a phatsimang
• Ntlafatso e matla ea underface
• Bothata ba marapo (leoto)
• Bolelele bo bolelele
• Ho loha kapa ho kopanya menoana ea maoto

Li-syndromes tse ling tse 'maloa li ka lebisa ponahalong e tšoanang ea sefahleho le hlooho, empa u se kenyeletse likarolo tse matla tsa letsoho le maoto tsa Apert syndrome. Li-syndromes tse tšoanang li kenyelletsa:

• Lefu la mapolanka (kleeblattschadel, deverity ea lehata la cloverleaf)
• Lefu la Crouzon (craniofacial dysostosis)
• Pfeiffer lefu
• Lefu la Saethre-Chotzen

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Li-x-ray tsa letsoho, leoto le lehata li tla etsoa. Liteko tsa kutlo li lokela ho lula li etsoa.

Ho lekoa ka liphatsa tsa lefutso ho ka tiisa hore lefu la Apert le fumanoa.

Kalafo e entsoe ka ho buuoa ho lokisa kholo e sa tloaelehang ea masapo a lehata, hammoho le ho kopana ha menoana le menoana ea maoto. Bana ba nang le bothata bona ba lokela ho hlahlojoa ke sehlopha se khethehileng sa opereishene ea craniofacial setsing sa bongaka sa bana.

Setsebi sa ho utloa se lokela ho botsoa haeba ho na le mathata a kutlo.

Mokhatlo oa Bana oa Craniofacial: ccakids.org

Bitsa mofani oa hau haeba u na le nalane ea lelapa ea Apert syndrome kapa u hlokomela lehata la ngoana oa hau ha le hōle hantle.

Keletso ea lefutso e ka ba molemo haeba u na le nalane ea lelapa ea lefu lena mme u rera ho ima. Mofani oa hau a ka leka ngoana oa hau bakeng sa lefu lena nakong ea bokhachane.

Acrocephalosyndactyly

• Ka tumellano

Goldstein JA, Losee JE. Ho buuoa ka polasetiki ea bana. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 23.

Motsoalle oa SL, Johnston MV. Likotsi tsa tlhaho ea methapo ea kutlo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 609.

Mauck BM, Jobe MT. Likotsi tsa tlhaho tsa letsoho. Ka: Azar FM, Beaty JH, Kanale ST, eds. Masapo a sebetsang a Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: khaolo ea 79.

Robin NH, Falk MJ, Haldeman-Englert CR. Li-syndromes tsa craniosynostosis tse amanang le FGFR. Litlhahlobo. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. E ntlafalitsoe ka la 7 Phuptjane 2011. E fihlile ka Phupu 31, 2019.