ʻO Ellis-van Creveld maʻi

ʻO Ellis-van Creveld Syndrome kahi maʻi maʻi laha ʻole e hoʻopili i ka ulu iwi.

Ua hala ʻo Ellis-van Creveld ma waena o nā ʻohana (hoʻoilina). Hoʻokumu ʻia ia e nā kīnā ma 1 o 2 Ellis-van Creveld syndrome genes (EVC a EVC2). Hoʻonoho ʻia kēia mau ʻāpana ma kahi o kekahi ma ka chromosome like.

Hoʻololi ke koʻikoʻi o ka maʻi i kēlā me kēia kanaka. ʻO ke kiʻekiʻe loa o ke kūlana i ʻike ʻia ma waena o ka Old Order Amish heluna kanaka o Lancaster County, Pennsylvania. He kākaʻikahi wale ia i ka lehulehu.

Pākuʻi ʻia paha nā ʻōuli:

• Lip lehelehe a palate paha
• ʻO Epispadias a i ʻole hōʻike hemo ʻole (cryptorchidism)
• Nā manamana keu (polydactyly)
• Palena palena palena o ka noi
• Nā pilikia kui, me nā kui kuʻi a i ʻole hōʻano ʻia
• Nā lima a me nā wāwae pōkole, ʻo ka forearm a me ka wāwae lalo
• Kiʻekiʻena kiʻekiʻe, ma waena o 3.5 a 5 kapuaʻi (1 a 1.5 mika) ke kiʻekiʻe
• ʻO ka lauoho lauoho ākea, kaawale, a i ʻole ke ʻano maikaʻi
• Nā niho ʻino ʻole, e like me nā niho kui, nā niho ākea ākea
• ʻO nā niho i ka wā hānau (nā niho hānau)
• Nā niho lohi a nalowale paha

ʻO nā hōʻailona o kēia ʻano me:

• ʻO ka hemahema o ka hormone ulu
• Nā kīnā o ka puʻuwai, e like me kahi puka i ka puʻuwai (hemahema atrial septal), e hana ʻia ma kahi o ka hapalua o nā hihia āpau

Loaʻa i nā hoʻāʻo:

• Pākuʻi x-ray
• ʻEchocardiogram
• Hana ʻia paha ka hoʻāʻo genetic no ka hoʻololi ʻana i kekahi o nā ʻaoʻao EVC ʻelua
• ʻIni-iwi ʻiwi
• Kukuna ultrasound
• Urinalysis

Pili ka mālama ʻana i ka ʻōnaehana o ke kino e hoʻopili a me ka paʻakikī o ka pilikia. ʻAʻole hiki ke mālama ʻia ke ʻano, akā hiki ke mālama ʻia i nā pilikia he nui.

Nui nā kaiāulu i nā hui kākoʻo EVC. E noi i kāu mea mālama ola a i ʻole kahi haukapila kūloko inā aia kekahi ma kou wahi.

Nui nā pēpē me kēia ʻano make i ka wā kamaliʻi. ʻO ka hapanui pinepine kēia ma muli o ka liʻiliʻi o ka pahu a me ka puʻuwai. Maʻamau ka hānau hānau.

Pili ka hopena i pili i ka ʻōnaehana o ke kino e pili ana a i ka nui o ka ʻōnaehana o ke kino. E like me nā kūlana genetika e pili ana i nā iwi a i ʻole ke ʻano o ke kino, maʻamau ka ʻike.

Komo pū nā pilikia:

• Nā mea kūpono ʻole o ka iwi
• Pilikia hanu
• ʻO ka maʻi puʻuwai Congenital (CHD) ʻoi aku ka hewa atrial septal (ASD)
• ʻO ka maʻi kīwī

Kāhea i kāu mea hāʻawi inā loaʻa kāu keiki i nā ʻōuli o kēia maʻi maʻi. Inā loaʻa iā ʻoe ka moʻolelo ʻohana o ka maʻi maʻi EVC a loaʻa i kāu keiki nā hōʻailona, ​​kipa i kāu mea hāʻawi.

Hiki i nā ʻōlelo aʻoaʻo genetic ke kōkua i ka ʻohana e hoʻomaopopo i ke ʻano a pehea e mālama ai i ke kanaka.

Paipai ʻia ka ʻōlelo aʻo genetic no nā mākua e hiki mai ana mai kahi hui kiʻekiʻe, a i ʻole he moʻolelo ʻohana ko EVC maʻi.

ʻO Chondroectodermal dysplasia; EVC

• Polydactyly - lima o kahi pēpē
• ʻO Chromosome a me DNA

Chitty LS, Wilson LC, Ushakov F. Diagnosis a me ka hoʻokele ʻana o nā kōiwi skeletal abnormalities. I: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Ka lāʻau lapaʻau Fetal: ʻEpekema ʻepekema a me nā hana lapaʻau. ʻEkolu huaʻōlelo. Piladelapia, PA: Elsevier; 2020: chap 34.

Hecht JT, Horton WA. ʻO nā maʻi ʻē aʻe i hoʻoili ʻia i nā iwi. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 720.