Apert Cov Mob

Apert Syndrome yog kab mob caj dab uas cov leeg khiav ntawm pob txha pob txha kaw ntxov dua li ib txwm. Qhov no cuam tshuam cov duab ntawm lub taub hau thiab ntsej muag. Cov menyuam yaus nrog Apert syndrome feem ntau muaj qhov tsis zoo ntawm txhais tes thiab taw ib yam.

Apert syndrome tuaj yeem sib dhau los ntawm cov tsev neeg (tau los ntawm niam txiv) yog ib qho kev coj cwj pwm tseem ceeb. Qhov no txhais tau hais tias tsuas yog ib tus niam txiv yuav tsum tau tso cov roj ntsha uas muaj nuj nqi rau tus menyuam thiaj li muaj tus mob.

Qee zaum yuav tshwm sim yam tsis paub txog keeb kwm tsev neeg.

Apert syndrome tshwm sim los ntawm ib qho ntawm ob qhov kev hloov pauv mus rau tus FGFR2 noob. Tus kabmob ntshav tsis zoo no ua rau qee lub pob zeb pob txha pob txha pob txha pob txha kaw kaw ntxov dhau. Tus mob no yog hu ua craniosynostosis.

Cov tsos mob muaj xws li:

• Thaum kawg kaw ntawm sutures ntawm cov pob txha pob txha taub hau, sau tseg los ntawm kev caij nrog lub ntsej muag (craniosynostosis)
• Muaj mob pob ntseg heev
• Kev sib tov lossis tawv nqaij ntawm lub duav thib 2, 3, thiab thib plaub, feem ntau hu ua "mitten hands"
• Hnov tsis hnov ​​lus
• Lub qhov mos lossis loj lossis kaw qhov mos ntawm tus menyuam pob txha taub hau
• Qhov tsim nyog, maj mam txhim kho txoj kev txawj ntse (txawv ntawm ib tug neeg mus rau lwm tus)
• Tseem ceeb lossis muag qhov muag
• Txo hauv-kev tsim ntawm lub sijhawm nruab nrab
• Skeletal (nqua) qhov txawv txav
• Qhov siab luv
• Webbing lossis fusion ntawm cov ntiv taw

Ob peb lwm yam kev mob tshwm sim tuaj yeem ua rau pom kev sib thooj ntawm lub ntsej muag thiab lub taub hau, tab sis tsis suav nrog qhov hnyav ntawm txhais tes thiab taw ntawm Apert syndrome. Cov syndromes zoo sib xws muaj:

• Kws ntoo syndrome (kleeblattschadel, pob txha pob txha pob txha pob txha lov)
• Kab mob Crouzon (craniofacial dysostosis)
• Pfeiffer syndrome
• Saethre-Chotzen syndrome

Tus kws kho mob yuav kuaj xyuas lub cev. Tes, ko taw, thiab pob txha taub hau xoo yuav tiav. Kev ntsuas qhov hnov ​​lus yuav tsum tau ua tas li.

Kev kuaj raws caj ces tuaj yeem lees paub qhov kev kuaj mob ntawm Apert syndrome.

Txoj kev kho yog muaj kev phais txhawm rau txhawm rau txhim kho pob txha txawv txav ntawm pob txha taub hau, ntxiv rau kev fusion ntawm cov ntiv tes thiab ntiv taw. Cov menyuam yaus uas muaj qhov tsis zoo no yuav tsum tau kuaj los ntawm pawg kws phais mob tshwj xeeb hauv chaw kho mob menyuam yaus.

Tus kws tshaj lij yuav tsum tau sab laj yog tias muaj teeb meem hauv kev hnov ​​lus.

Koom Haum Craniofacial Cov Menyuam: ccakids.org

Hu rau koj tus kws kho mob yog tias koj muaj keeb kwm tsev neeg mob Apert syndrome lossis koj pom tias koj tus menyuam lub pob txha taub hau tsis loj hlob ib txwm.

Kev pab tswv yim rau caj ces yuav muaj txiaj ntsig yog tias koj muaj keeb kwm tsev neeg ntawm qhov kev tsis zoo no thiab npaj xeeb menyuam. Koj tus kws khomob tuaj yeem kuaj koj tus menyuam tau tus kabmob no thaum cev xeeb tub.

Acrocephalosyndactyly

• Syndactyly

Goldstein JA, Losee JE. Kev phais mob yas. Hauv: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 23.

Kinsman SL, Johnston MV. Congenital anomalies ntawm lub hauv nruab nrab poob siab. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 609.

Mauck BM, Txoj Haujlwm MT. Congenital anomalies ntawm tes. Hauv: Azar FM, Beaty JH, Canale ST, eds. Campbell's Kev Ua Haujlwm OrthopedicsCov. 13th ed. Philadelphia, PA: Elsevier; 2017: tshooj 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR ntsig txog craniosynostosis syndromes. GeneReviewsCov. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Hloov kho Lub Rau Hli 7, 2011. Nkag mus Lub Xya Hli 31, 2019.