Isifo sika-Ellis-van Creveld

Isifo i-Ellis-van Creveld sisifo esingaqhelekanga esichaphazela ukukhula kwamathambo.

U-Ellis-van Creveld ugqithiselwa kwiintsapho (ezizuzwe njengelifa). Kubangelwa ziziphene ku-1 ko-2 u-Ellis-van Creveld syndromeI-EVC kwaye I-EVC2). Ezi zofuzo zibekwe ecaleni kwenye kwenye kwi-chromosome efanayo.

Ubukhulu besifo buyahluka kuye ngomntu. Elona nqanaba liphezulu lale meko libonwa phakathi kweOld Order Amish yabemi baseLancaster County, ePennsylvania. Inqabile into kubemi ngokubanzi.

Iimpawu zingabandakanya:

• Umlomo ococekileyo okanye inkalakahla
• I-Epispadias okanye ityhalarha engafunekiyo (i-cryptorchidism)
• Iminwe eyongezelelweyo (polydactyly)
• Uluhlu olunomda lokuhamba
• Iingxaki zenzipho, kubandakanya ukungabikho okanye izipikili ezilahlekile
• Iingalo ezimfutshane kunye nemilenze, ngakumbi ingalo kunye nomlenze ongezantsi
• Ukuphakama okufutshane, phakathi kwe-3.5 ukuya kwi-5 yeenyawo (1 ukuya kwi-1.5 yeemitha) ubude
• Izinwele ezimbalwa, ezingekhoyo, okanye ezintle ezenziwe ngombala
• Ukungaqheleki kwamazinyo, njengamazinyo esikhonkwane, amazinyo abanzi ngokubanzi
• Amazinyo akho xa kuzalwa (amazinyo emvelo)
• Ukulibaziseka okanye ukungabikho kwamazinyo

Iimpawu zale meko zibandakanya:

• Ukusilela kwehomoni yokukhula
• Iziphene zentliziyo, ezinje ngomngxuma entliziyweni (isiphene se-atrial septal), zenzeka malunga nesiqingatha sazo zonke iimeko

Uvavanyo lubandakanya:

• I-x-ray yesifuba
• Echocardiogram
• Uvavanyo lweMfuzo lungenziwa ukuze kuguqulwe enye yezi ntlobo zimbini ze-EVC
• X-reyi yamathambo
• I-Ultrasound
• Uhlalutyo lomchamo

Unyango luxhomekeke kwinkqubo yomzimba echaphazelekayo kunye nobunzima bengxaki. Imeko yona ayinyangeki, kodwa uninzi lweengxaki zinokunyangwa.

Uluntu oluninzi lunamaqela enkxaso ye-EVC. Buza umboneleli wakho wezempilo okanye isibhedlele sendawo ukuba kukho enye kwindawo yakho.

Uninzi lweentsana ezinale meko zifa ziselusana. Amaninzi, oku kubangelwa sisifuba esincinci okanye isiphene sentliziyo. Ukuzalwa komntwana kuxhaphakile.

Isiphumo sixhomekeke ekubeni yeyiphi na inkqubo yomzimba ebandakanyekayo kwaye ibandakanyeka kangakanani kwinkqubo yomzimba. Njengoninzi lweemeko zemfuza ezibandakanya amathambo okanye ubume bomzimba, ubukrelekrele buqhelekile.

Iingxaki zinokubandakanya:

• Ukungaqhelekanga kwethambo
• Ukuphefumla ubunzima
• Isifo sentliziyo ekhulelwe (CHD) ngakumbi isifo se-septal defect (ASD)
• Isifo sezintso

Tsalela umnikezeli wakho ukuba umntwana wakho uneempawu zesi sifo. Ukuba unembali yosapho ye-EVC syndrome kwaye umntwana wakho uneempawu, ndwendwela umboneleli wakho.

Iingcebiso ngemfuzo zinokunceda iintsapho ziqonde imeko kunye nendlela yokukhathalela umntu.

Ukucebisa ngemfuza kuyacetyiswa kwabo banokuba ngabazali kwiqela elinomngcipheko omkhulu, okanye abanembali yosapho yesifo se-EVC.

I-chondroectodermal dysplasia; I-EVC

• Polydactyly - isandla somntwana
• Chromosomes kunye neDNA

I-Chitty LS, i-Wilson LC, i-Ushakov F. Ukuchonga kunye nokulawulwa kokungaqhelekanga kwamathambo omntwana. Ku: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, ii-eds. Unyango lwe-Fetal: iSayensi esisiseko kunye nokuziqhelanisa neKlinikhi. Ngomhla wesi-3. IPhiladelphia, PA: Elsevier; 2020: isahluko 34.

IHecht JT, iHorton WA. Olunye uhlobo lokuphazamiseka kwilifa lokuphuhla kwamathambo. 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 720.