Matenda a Ellis-van Creveld

Matenda a Ellis-van Creveld ndimatenda achilendo omwe amakhudza kukula kwa mafupa.

Ellis-van Creveld amadutsa m'mabanja (obadwa nawo). Zimayambitsidwa ndi zofooka mu 1 mwa 2 Ellis-van Creveld matenda amtundu (EVC ndipo EVC2). Majiniwa amakhala moyandikana wina ndi mnzake pa chromosome yomweyo.

Kukula kwa matendawa kumasiyanasiyana malinga ndi munthu. Mkhalidwe wapamwamba kwambiri wa vutoli ukuwoneka pakati pa anthu achi Old Order Amish aku Lancaster County, Pennsylvania. Ndizochepa kwambiri mwa anthu wamba.

Zizindikiro zimaphatikizapo:

• Lambulani mlomo kapena m'kamwa
• Epispadias kapena testicle yosavomerezeka (cryptorchidism)
• Zowonjezera zala (polydactyly)
• Kuyenda kocheperako
• Mavuto amisomali, kuphatikiza misomali yosowa kapena yolumala
• Manja ndi miyendo yayifupi, makamaka kutsogolo ndi mwendo wakumunsi
• Kutalika kochepa, pakati pa 3.5 mpaka 5 mita (1 mpaka 1.5 mita) wamtali
• Tsitsi laling'ono, losowa, kapena labwino
• Zovuta zamano, monga zikhomo, mano otalikirana kwambiri
• Mano amapezeka pakubadwa (mano achibadwidwe)
• Mano akuchedwa kapena akusowa

Zizindikiro za vutoli ndi monga:

• Kukula kwa mahomoni okula
• Zolakwika pamtima, monga bowo pamtima (atrial septal defect), zimachitika pafupifupi theka la milandu yonse

Mayeso ndi awa:

• X-ray pachifuwa
• Zojambulajambula
• Kuyesedwa kwa majini kumatha kuchitidwa pakusintha kwamtundu umodzi mwamagawo awiri a EVC
• X-ray ya mafupa
• Ultrasound
• Kupenda kwamadzi

Chithandizo chimadalira momwe thupi limakhudzidwira komanso kuopsa kwa vutoli. Matendawawo sangachiritsidwe, koma zovuta zambiri zimatha kuchiritsidwa.

Madera ambiri ali ndi magulu othandizira a EVC. Funsani wothandizira zaumoyo wanu kapena chipatala chapafupi ngati pali chimodzi m'dera lanu.

Ana ambiri omwe ali ndi vutoli amamwalira adakali aang'ono. Nthawi zambiri izi zimachitika chifukwa cha chifuwa chaching'ono kapena vuto la mtima. Kubadwa kwa mwana kumakhala kofala.

Zotsatira zake zimadalira momwe thupi limakhudzidwira komanso momwe thupi limakhudzidwira. Monga machitidwe ambiri amtundu wa mafupa kapena kapangidwe kake, luntha ndilabwino.

Zovuta zingaphatikizepo:

• Zovuta za mafupa
• Kupuma kovuta
• Matenda amtima obadwa nawo (CHD) makamaka atrial septal defect (ASD)
• Matenda a impso

Itanani omwe akukuthandizani ngati mwana wanu ali ndi zizindikiro za matendawa. Ngati muli ndi mbiri yokhudza banja la matenda a EVC ndipo mwana wanu ali ndi zizindikilo, pitani kwa omwe amakuthandizani.

Upangiri wa chibadwa ungathandize mabanja kumvetsetsa za vutoli komanso momwe angamusamalire.

Upangiri wa chibadwa umalimbikitsidwa kwa oyembekezera kukhala makolo ochokera pagulu lowopsa, kapena omwe ali ndi mbiri yabanja ya matenda a EVC.

Chondroectodermal dysplasia; EVC

• Polydactyly - dzanja la khanda
• Chromosomes ndi DNA

Chitty LS, Wilson LC, Ushakov F. Kuzindikira ndikuwongolera zovuta zam'mimba za fetus. Mu: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Mankhwala a Fetal: Basic Science ndi Clinical Practice. Wachitatu ed. Philadelphia, PA: Elsevier; 2020: chap 34.

Wachinyamata JT, Horton WA. Matenda ena obadwa nawo amakulidwe a mafupa. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 720.