Ellis-van Creveld chirwere

Ellis-van Creveld syndrome chirwere chisingawanzoitika chinokanganisa kukura kwemapfupa.

Ellis-van Creveld inopfuudzwa kuburikidza nemhuri (nhaka). Inokonzerwa nehurema mu1 pa2 Ellis-van Creveld syndrome majini (EVC uye EVC2). Aya majini akamira padhuze nepadenga pane imwecheteyo chromosome.

Kukura kwechirwere kunosiyana pamunhu nemunhu. Iyo yakanyanya mwero wemamiriro ezvinhu inoonekwa pakati peOld Order Amish huwandu hweLancaster County, Pennsylvania. Izvo zvisingawanzo kuwanikwa muhuwandu hwevanhu.

Zviratidzo zvinogona kusanganisira:

• Wakachena muromo kana mukanwa
• Epispadias kana isingadiwe testicle (cryptorchidism)
• Zvimwe zvigunwe (polydactyly)
• Yakatemerwa renji yekufamba
• Zvipikiri, kusanganisira zvisipo kana zvipikiri zvakaremara
• Mapfupi maoko nemakumbo, kunyanya ruoko rwemberi uye gumbo repazasi
• Kureba kupfupi, pakati pe3,5 kusvika 5 tsoka (1 kusvika 1.5 mita) kureba
• Shoma, isipo, kana yakanaka bvudzi rakagadzirwa
• Kusagadzikana kwezino, senge hoko mazino, mazino akapararira
• Mazino aripo pakuberekwa (mazino echisikigo)
• Kunonoka kana kushaya mazino

Zviratidzo zveichi chiitiko zvinosanganisira:

• Kukura kushomeka kwehomoni
• Kukanganisa kwemoyo, senge gomba mumoyo (atrial septal defect), kunoitika munenge hafu yezviitiko zvese

Miedzo inosanganisira:

• Chest x-ray
• Echocardiogram
• Kuongorora kweGenetic kunogona kuitirwa shanduko mune imwe yeaya maEV majini
• Skeletal x-ray
• Ultrasound
• Kuongorora urinal

Kurapa kunoenderana nekuti ndeapi masisitimu emuviri anokanganiswa uye kuoma kwedambudziko. Mamiriro acho pachawo haarapike, asi akawanda ematambudziko anogona kurapwa.

Nharaunda zhinji dzine mapoka ekutsigira EVC. Kumbira mubatsiri wako wehutano kana chipatara chemunharaunda kana paine mumwe munharaunda yako.

Vacheche vazhinji vane chirwere ichi vanofa vachiri vadiki. Kazhinji kazhinji izvi zvinokonzerwa nebhokisi diki kana kuremara kwemoyo. Kuberekwa kwakafa kunowanzoitika.

Mhedzisiro yacho inoenderana nekuti nemuviri wei unobatanidzwa uye kusvika papi panobatanidzwa system yemuviri. Kufanana neakawanda majini mamiriro anosanganisira mapfupa kana chimiro chechimiro, ungwaru zvakajairika.

Zvinetso zvinogona kusanganisira:

• Bone kusanzwisisika
• Kufema kunetseka
• Congenital moyo chirwere (CHD) kunyanya atrial septal defect (ASD)
• Chirwere cheitsvo

Fonera waunopa kana mwana wako aine zviratidzo zvechirwere ichi. Kana iwe uine nhoroondo yemhuri yeEVC syndrome uye mwana wako aine chero zviratidzo, shanyira mupi wako.

Kurairidzwa kwemageneti kunogona kubatsira mhuri kunzwisisa mamiriro uye nzira yekuchengeta munhu wacho.

Genetic counselling inokurudzirwa kune vangangove vabereki kubva kuboka rine njodzi, kana vane nhoroondo yemhuri yeEVC syndrome.

Chondroectodermal dysplasia; EVC

• Polydactyly - ruoko rwemucheche
• Chromosomes uye DNA

Chitty LS, Wilson LC, Ushakov F. Kuongororwa uye manejimendi e "fetal skeletal abnormalities". Mune: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Fetal Mushonga: Basic Science uye Clinical Practice. 3rd ed. Philadelphia, PA: Elsevier; 2020: chits. 34.

Hecht JT, Horton WA. Zvimwe zvinokanganisa nhaka yekukura kwemabhonzo. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 720.