Isifo se-Ellis-van Creveld

I-Ellis-van Creveld syndrome yisifo esingajwayelekile sofuzo esithinta ukukhula kwamathambo.

U-Ellis-van Creveld udluliselwa emindenini (ezuzwe njengefa). Kubangelwa ukukhubazeka kuzakhi zofuzo ezi-1 kwezingu-2 ze-Ellis-van Creveld syndrome (I-EVC futhi EVC2). Lezi zofuzo zibekwe eceleni komunye kwi-chromosome efanayo.

Ubukhulu besifo buyehluka kuye ngomuntu nomuntu. Izinga eliphakeme lalesi simo libonakala kubantu base-Old Order Amish baseLancaster County, ePennsylvania. Kuyinto engavamile kubantu abaningi.

Izimpawu zingafaka:

• I-Cleft lip noma ulwanga
• I-Epispadias noma i-testicle engathandeki (i-cryptorchidism)
• Iminwe eyengeziwe (polydactyly)
• Ububanzi obunomkhawulo bokunyakaza
• Izinkinga zesipikili, kufaka phakathi izipikili ezingekho noma ezikhubazekile
• Izingalo nemilenze emifushane, ikakhulukazi ingalo nomlenze ongezansi
• Ukuphakama okufushane, phakathi kwamamitha angu-3,5 kuya kwangu-5 (1 kuya ku-1.5 imitha) ubude
• Izinwele ezixutshiwe, ezingekho, noma ezinhle
• Ukungajwayelekile kwamazinyo, njengamazinyo esikhonkwane, amazinyo ahlukaniswe kabanzi
• Amazinyo akhona lapho kuzalwa (amazinyo emvelo)
• Amazinyo abambezelekile noma alahlekile

Izimpawu zalesi simo zifaka:

• Ukukhula kwe-hormone yokukhula
• Ukukhubazeka kwenhliziyo, okufana nomgodi enhliziyweni (i-atrial septal defect), kwenzeka cishe isigamu sawo wonke amacala

Izivivinyo zifaka:

• I-x-ray yesifuba
• I-Echocardiogram
• Ukuhlolwa kofuzo kungenzelwa ukuguqulwa kohlobo olulodwa lwama-EVC amabili
• I-x-ray yamathambo
• I-Ultrasound
• Ukuhlolwa komchamo

Ukwelashwa kuncike ekutheni yiluphi uhlelo lomzimba oluthintekayo nobukhulu benkinga. Isimo ngokwaso aselapheki, kepha izinkinga eziningi zingelashwa.

Imiphakathi eminingi inamaqembu okusekela i-EVC. Buza umhlinzeki wakho wezempilo noma isibhedlela sendawo ukuthi sikhona yini endaweni yangakini.

Izingane eziningi ezinalesi sifo zifa zisencane. Ngokuvamile lokhu kungenxa yesifuba esincane noma ukukhubazeka kwenhliziyo. Ukubeletha okuvamile kuyinsakavukela.

Umphumela uncike ekutheni yiluphi uhlelo lomzimba oluthintekayo nokuthi uhlelo lomzimba luthinteka kangakanani. Njengezimo eziningi zofuzo ezibandakanya amathambo noma ukwakheka komzimba, ubuhlakani bujwayelekile.

Izinkinga zingafaka:

• Ukungajwayelekile kwamathambo
• Ubunzima bokuphefumula
• Isifo senhliziyo esizalwa naso (CHD) ikakhulukazi i-atrial septal defect (ASD)
• Isifo sezinso

Shayela umhlinzeki wakho uma ingane yakho inezimpawu zalesi sifo. Uma unomlando womndeni we-EVC syndrome futhi ingane yakho inezimpawu, vakashela umhlinzeki wakho.

Ukwelulekwa ngofuzo kungasiza imindeni ukuthi iqonde isimo nokuthi ingamnakekela kanjani lowo muntu.

Ukwelulekwa ngofuzo kunconyelwa abazali abazoba seqenjini elinobungozi obukhulu, noma abanomlando womndeni we-EVC syndrome.

I-chondroectodermal dysplasia; I-EVC

• I-Polydactyly - isandla sengane
• Ama-Chromosomes ne-DNA

I-Chitty LS, i-Wilson LC, i-Ushakov F. Ukuxilongwa nokuphathwa kokukhubazeka kwamathambo engane. Ku: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, ama-eds. Imithi ye-Fetal: Isayensi Eyisisekelo kanye Nokuzijwayeza Komtholampilo. 3rd ed. IPhiladelphia, PA: Elsevier; 2020: isahluko 34.

I-Hecht JT, Horton WA. Okunye ukuphazamiseka okuzuzwe njengefa kokukhula kwamathambo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 720.