Ellis-van Creveld syndrome

Ellis-van Creveld syndrome yog qhov tsis tshua muaj caj ces cuam tshuam rau kev loj hlob ntawm pob txha.

Ellis-van Creveld tau dhau los ntawm cov tsev neeg (tau txais los). Nws tshwm sim los ntawm teeb meem hauv 1 ntawm 2 Ellis-van Creveld syndrome (EVC thiab EVC2)). Cov noob no tau muab tso ib sab ntawm lwm tus ntawm tib lub chromosome.

Qhov mob hnyav sib txawv ntawm ib tus neeg mus rau lwm tus. Cov neeg mob siab tshaj plaws yog pom ntawm Cov Qub Order Amish ntawm cov pej xeem hauv Nroog Lancaster, Pennsylvania. Nws yog qhov zoo tsawg rau hauv cov pej xeem.

Cov tsos mob tuaj yeem suav nrog:

• Ciav di ncauj lossis daim di ncauj
• Epispadias lossis cov noob qes uas tsis tau muab ua (cryptorchidism)
• Ntxiv ntiv tes (polydactyly)
• Cov khoom lag luam tsawg tsawg
• Ntsia cov teeb meem, nrog rau cov ntsia hlau ploj los yog txiav
• Luv caj npab thiab txhais ceg, tshwj xeeb tshaj yog caj npab thiab sab ceg qis
• Luv qhov siab, nruab nrab ntawm 3.5 txog 5 ko taw (1 txog 1.5 metres) siab
• Tawv, tsis tuaj yeem, lossis cov plaub hau zoo nkauj
• Hniav txawv txav, xws li pas peg, cov hniav dav dav
• Cov hniav tuaj thaum yug (cov hniav ntawm hniav)
• Qeeb lossis ploj lawm cov hniav

Cov cim ntawm tus mob no suav nrog:

• Kev loj hlob hormone tsis txaus
• Lub plawv tsis xws luag, xws li lub qhov dej hauv lub plawv (atrial septal defect), tshwm sim li ntawm ib nrab ntawm txhua kis

Kev Xeem muaj xws li:

• Kev ntsuas hluav taws xob xoo
• Echocardiogram
• Kev kuaj raws caj ces tuaj yeem ua rau kev hloov hauv ib ntawm ob ntawm EVC noob
• Skeletal x-ray
• Ultrasound
• Mob Lub Hlaus

Kev kho yog nyob ntawm seb lub cev muaj kev tiv thaiv twg thiab qhov mob loj npaum li cas. Tus mob nws tus kheej tsis tuaj yeem kho, tab sis muaj ntau yam mob yuav kho tau.

Ntau cov zej zog muaj EVC txhawb pab pawg. Nug koj tus kws kho mob lossis tsev kho mob hauv nroog yog tias muaj ib qho ntawm koj qhov chaw.

Coob tus menyuam uas muaj tus mob no yuav tuag thaum tseem yau. Feem ntau qhov no yog vim muaj lub hauv siab me lossis lub siab tsis ua haujlwm. Stillbirth yog hom.

Qhov tshwm sim nyob ntawm seb lub cev muaj feem nrog dab tsi thiab koom nrog qhov twg hauv lub cev ua haujlwm. Zoo li ntau yam mob muaj keeb xeeb ntsig txog cov pob txha lossis lub cev qauv, kev ntse yog ib txwm.

Teeb meem yuav suav nrog:

• Cov pob txha tsis meej
• Ua tsis taus pa nyuaj
• Congenital mob plawv (CHD) tshwj xeeb tshaj yog atrial septal defect (ASD)
• Mob raum

Hu rau koj tus kws kho mob yog tias koj tus menyuam muaj cov tsos mob no. Yog tias koj muaj keeb kwm kab mob EVC syndrome thiab koj tus me nyuam muaj mob, mus ntsib koj tus kws kho mob.

Kev pab tswv yim rau caj ces yuav pab cov tsev neeg to taub txog tus mob thiab yuav tu tus neeg li cas.

Kev tawm tswv yim rau caj ces raug pom zoo rau cov niam txiv yav tom ntej los ntawm cov pab pawg neeg pheej hmoo siab, lossis cov uas muaj keeb kwm tsev neeg muaj tus mob EVC.

Chondroectodermal dysplasia; EVC

• Polydactyly - tus menyuam mos liab tes
• Chromosomes thiab DNA

Chitty LS, Wilson LC, Ushakov F. Kev kuaj mob thiab saib xyuas tus me nyuam hauv plab pob txha tsis zoo. Hauv: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Kev Siv Tshuaj Rau Me Nyuam: Qhov Tshawb Fawb thiab Kev Siv TshuajCov. 3lawm ed. Philadelphia, PA: Elsevier; 2020: chau 34.

Hecht JT, Horton WA. Lwm yam pub raws kev tsis taus ntawm kev txhim kho pob txha. 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: chap 720.