Hydrolethalus Syndrome le Mathata a Tsoalo

Sehlopha se Shoeleng sa Mathata a Tsoalo

Hydrolethalus syndrome ke sehlopha se bolaeang sa bokooa bo bakoang ke lefu la liphatsa tsa lefutso. Ho ile ha fumanoa lefu la Hydrolethalus ha bafuputsi ba ntse ba ithuta boloetse bo bong, bo bitsoang Meckel syndrome, Finland. Ba fumane linyeoe tse 56 tsa hydrolethalus syndrome Finland, e bolelang hore ho na le bonyane bana ba ka bang 20 000 moo. Ho bile le bonyane tse ling tse 5 tse tlalehoang tsa hydrolethalus syndrome tse hatisitsoeng libukeng tsa lefapha la bongaka.

Bafuputsi ba ile ba sebelisa bana ba Mafinnishe le ba malapa a bona, 'me ba fumana phetoho ea liphatsa tsa lefutso e ikarabellang bakeng sa hydrolethalus syndrome ho batho ba Finland. Lefapha, le bitsoang HYLS-1, le ka chromosome 11. Phuputso e fana ka maikutlo a hore phetoho ea liphatsa tsa lefutso e futsitse mofuteng oa motsoako oa autosomal.

Matšoao a Hydrolethalus Syndrome

Hydrolethalus syndrome e na le sehlopha sa litšenyehelo tse tsoaloang tsa tsoalo, ho akarelletsa:

• Haholo hydrocephalus (metsi a mangata haholo bokong)
• Mofuthu o monyenyane haholo (o bitsoang micrognathia)
• Molomo o hloekileng kapa o hlabang
• Mokhoa oa ho hema o se nang bokooa
• Congenital pelo litšitiso
• Lintoana tse ling le menoana e mengata (e bitsoang polydactyly), haholo-holo monoana o moholo o kopitsitsoeng
• Phoso ea boko, ho kenyeletsa mehaho e lahlehileng

Tlhahlobo ea Hydrolethalus Syndrome

Bana ba bangata ba nang le hydrolethalus syndrome ba amoheloa pele ba tsoaloa ke ultrasound ea bakhachane. Hydrocephalus le malformation a bokooa li fana ka tlhahiso ea hore motho a hlahlojoe.

Ho hlahloba lesea la motsoako ka ultrasound, kapa lesea le hlahileng, ho hlokahala ho laola li-syndrome tse kang Meckel syndrome , Trisomy 13 kapa Smith-Lemli-Opitz.

Outlook

Hangata lesea le nang le hydrolethalus syndrome le hlaha pele ho nako. Hoo e ka bang 70% ea masea a nang le lefu lena a tsoaloe. Ba tsoetsoeng ba phela ha ba phele nako e telele.

_Lisebelisoa

_{Tiller, George E .. "Hydrolethalus Syndrome 1." OMIM Database. 09 Jan 2007. NCBI.}

_{Salonen, R., & R. Herva. "Hydrolethalus syndrome." Journal of Medical Genetics 27 (1990): 756-759. Print.}