Isifo se-Apert

I-Apert syndrome sisifo semfuza apho imiqolo phakathi kwamathambo okakayi ivala kwangoko kunesiqhelo. Oku kuchaphazela ukumila kwentloko nobuso. Abantwana abane-Apert syndrome bahlala benokukhubazeka kwezandla neenyawo ngokunjalo.

Isifo se-Apert singadluliselwa kwiintsapho (ezizuzwe njengelifa) njengeyona nto iphambili kwi-autosomal. Oku kuthetha ukuba kuphela ngumzali omnye ekufuneka edlulise uhlobo olungalunganga lomntwana ukuba abe kwimeko.

Ezinye iimeko zinokwenzeka ngaphandle kwembali yosapho eyaziwayo.

I-Apert syndrome ibangelwa lolunye lweenguqu ezimbini kwi FGFR2 Uhlobo. Esi siphene semfuza senza ukuba ezinye zeebhon sutures zokhakhayi zivalwe kwangoko kakhulu. Le meko ibizwa ngokuba yi-craniosynostosis.

Iimpawu zibandakanya:

• Ukuvalwa kwangoko kwemisipha phakathi kwamathambo okakayi, kuqatshelwe ngokugungxula nge-sutures (craniosynostosis)
• Ukusuleleka rhoqo kwindlebe
• Ukudibanisa okanye ukubamba ngokuqatha umnwe wesi-2, 3, kunye no-4, odla ngokubizwa ngokuba yi "mitten hands"
• Ukuphulukana nokuva
• Indawo enkulu ethambileyo okanye evalela kade kwikhakhayi lomntwana
• Kuyenzeka, ukukhula kancinci kwengqondo (kuyahluka kuye ngomntu)
• Amehlo aqaqambileyo okanye aqhekekileyo
• Ukukhula okungaphantsi kophuculo lwangaphakathi
• Ukuqaqanjelwa ngamathambo (amalungu)
• Ukuphakama okufutshane
• Ukuluka okanye ukudibanisa iinzwane

Ezinye ii-syndromes zinokukhokelela kwinkangeleko efanayo yobuso kunye nentloko, kodwa azibandakanyi iimpawu ezinzima zesandla kunye neenyawo ze-Apert syndrome. Ezi syndromes ezifanayo zibandakanya:

• Isifo seCarpenter (i-kleeblattschadel, i-cloverleaf skull deformity)
• Isifo seCrouzon (craniofacial dysostosis)
• Isifo sePfeiffer
• Isifo seSaethre-Chotzen

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Isandla, unyawo, kunye nekhakhayi x-reyi iya kwenziwa. Uvavanyo lokuva kufuneka luhlale lusenziwa.

Uvavanyo lwe-Genetic lunokuqinisekisa ukuxilongwa kwe-Apert syndrome.

Unyango lubandakanya utyando ukulungisa ukukhula kwamathambo ngokungaqhelekanga, kunye nokudityaniswa kweminwe neenzwane. Abantwana abanale ngxaki kufuneka bahlolwe liqela elikhethekileyo lotyando lwe-craniofacial kwiziko lezonyango labantwana.

Iingcali zokuva kufuneka kuboniswane nazo ukuba kukho iingxaki zokuva.

Umbutho wabantwana weCranofacial Association: ccakids.org

Fowunela umboneleli wakho ukuba unembali yosapho ye-Apert syndrome okanye uqaphela ukuba ukakayi lomntwana wakho alukhule kakuhle.

Ukucebisa ngemfuza kunokuba luncedo ukuba unembali yosapho kwesi sifo kwaye uceba ukukhulelwa. Umboneleli wakho unokuvavanya umntwana wakho kwesi sifo xa ukhulelwe.

Acrocephalosyndactyly

• Ngokudibeneyo

IGoldstein JA, iLosee JE. Utyando lweplastiki lwabantwana. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 23.

Isalamane SL, uJohnston MV. Ukungafani okuzalwa kwenkqubo ye-nervous system. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 609.

Mauck BM, Jobe MT. Iziphene esizalwa nazo zesandla. Ku: Azar FM, Beaty JH, Kanale ST, ii-eds. Umsebenzi weCampbell's Orthopedics. Umhla we-13. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 79.

URobin NH, uFalk MJ, uHaldeman-Englert CR. I-craniosynostosis syndromes enxulumene ne-FGFR. Uphononongo lweGene. Ngo-2011: 11. IINKCUKACHA: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Ukuhlaziywa ngoJuni 7, 2011. Kufikeleleke ngoJulayi 31, 2019.