Apert chirwere

Apert syndrome chirwere chemajini umo mativi ari pakati pemadehenya emapfupa anovhara zvakapfuura pane zvakajairwa. Izvi zvinokanganisa chimiro chemusoro uye kumeso. Vana vane Apert syndrome vanowanzove nekuremara kwemaoko nemakumbo futi.

Apert syndrome inogona kupfuudzwa kuburikidza nemhuri (nhaka) seyakanyanya autosomal hunhu. Izvi zvinoreva kuti mubereki mumwe chete ndiye anoda kupfuudza jeni rakakanganisika kuti mwana ave nemamiriro acho.

Zvimwe zviitiko zvinogona kuitika pasina nhoroondo yemhuri inozivikanwa.

Apert syndrome inokonzereswa neimwe yechipiri shanduko kune iyo FGFR2 geni. Uku kuremara kwemajini kunokonzeresa mamwe emabony sutures edehenya kuvhara nekukurumidza. Aya mamiriro anonzi craniosynostosis.

Zviratidzo zvinosanganisira:

• Kuvhara kwekutanga kwemasuture pakati pemapfupa ehenya, akacherekedzwa nekukwirana pamwe nemasutu (craniosynostosis)
• Kazhinji hutachiona hutachiona
• Fusion kana yakasimba webbing yechipiri, yechitatu, uye yechina minwe, inowanzozonzi "mitten maoko"
• Kunzwa kurasikirwa
• Yakakura kana yekupedzisira-yekuvhara yakapfava nzvimbo pane dehenya remwana
• Zvinogoneka, kunonoka kukura kwehungwaru (zvinosiyana kubva pamunhu kuenda kumunhu)
• Akakurumbira kana maziso anopenya
• Yakakomba pasi-kusimudzira kwepakati
• Skeletal (limb) kusagadzikana
• Kureba kupfupi
• Kubata kana kusanganisa zvigunwe

Mamwe ma syndromes anogona kutungamira kune yakafanana chitarisiko chechiso nemusoro, asi usasanganise ruoko rwakakomba nerutsoka maficha eApert syndrome. Aya syndromes akafanana anosanganisira:

• Carpenter syndrome (kleeblattschadel, cloverleaf dehenya deformity)
• Chirwere cheCrouzon (craniofacial dysostosis)
• Pfeiffer chirwere
• Saethre-Chotzen chirwere

Anopa hutano anoita bvunzo dzepanyama. Ruoko, tsoka, uye dehenya x-rays zvichaitwa. Kunzwa bvunzo kunofanira kugara kuchiitwa.

Genetic kuyedza kunogona kusimbisa kuongororwa kweApert syndrome.

Kurapa kunosanganisira kuvhiyiwa kugadzirisa kusagadzikana kwemapfupa kukura kwehenya, pamwe nekusanganiswa kweminwe nezvigunwe. Vana vane chirwere ichi vanofanirwa kuongororwa nehunyanzvi craniofacial timu yekuvhiya kuchipatara chevana.

Nyanzvi yekunzwa inofanirwa kubvunzwa kana paine matambudziko ekunzwa.

Yevana Craniofacial Association: ccakids.org

Fonera mupiki wako kana uine nhoroondo yemhuri yeApert syndrome kana iwe ukaona dehenya remwana wako risiri kukura zvakajairika.

Kurairidzwa kwegeneti kunogona kubatsira kana iwe uine nhoroondo yemhuri yechirwere ichi uye uri kuronga kuve nepamuviri. Mupiki wako anogona kuyedza mwana wako chirwere ichi panguva yepamuviri.

Acrocephalosyndactyly

• Syndactyly

Goldstein JA, Kurasikirwa JE. Kuvhiya kwepurasitiki kwevana. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 23.

Kinsman SL, Johnston MV. Congenital anomalies epakati etsinga system. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 609.

Mauck BM, Jobe MT. Kuberekwa kusakanganiswa kwemaoko. Mu: Azar FM, Beaty JH, Kanale ST, eds. Kushanda kwaCampbell Orthopedics. 13 ed. Philadelphia, PA: Elsevier; 2017: chits. 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-inoenderana craniosynostosis syndromes. GeneReviews. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Yakagadziridzwa June 7, 2011. Yakasvika muna Chikunguru 31, 2019.