I-Hydrolethalus Syndrome kunye noLwahlulo lokuzalwa

Iqela Elibulalayo Lokukhubazeka Kwokuzalwa

I-Hydrolethalus syndrome yinqanaba elibulalayo lokukhubazeka kokuzalwa elibangelwa yi-disorder disorder. I-Hydrolethalus syndrome yafunyanwa xa abaphandi befunda enye ingxaki, ebizwa ngokuba yi-Meckel syndrome, eFinland. Bafumene amacala angama-56 e-hydrolethalus syndrome e-Finland, oku kuthetha ukuba kukho ubuncinane babantwana abayi-20 000 apho. Kukho ubuncinane ama-5 amanye amava e-hydrolethalus syndrome epapashwe kwincwadi yoncedo lwezobisi.

Ukusebenzisa iintsana zaseFinnish kunye neentsapho zabo, abaphandi bafumanisa ukuguqulwa kwemfuyo ejongene ne-hydrolethalus syndrome kubantu baseFinnish. I- gene , ebizwa ngokuba yi-HYLS-1, i-chromosome 11. Uphando lubonisa ukuba ukuguqulwa kwemfuzo kuzuze ilifa lombhalo ogqithiseleyo.

Iimpawu zeHydrolethalus Syndrome

I-Hydrolethalus syndrome iqulethe iqela leempembelelo zokuzalwa ezihlukeneyo, kuquka:

• I-hydrocephalus enamandla (umthamo ogqithiseleyo kwingqondo)
• Umhlathi omncinci ophantsi (obizwa ngokuba yi-micrognathia)
• Umlomo ococekileyo okanye utywala
• Inkqubo yokuphefumula engalunganga
• Ukukhubazeka kwentliziyo
• Iminwe eyongezelelweyo kunye neenzwane (ezibizwa nge-polydactyly), ingakumbi inzondo enkulu
• Ukuchithwa kwengqondo, kubandakanywa izakhiwo ezingekhoyo

Ukuxilongwa kwe-Hydrolethalus Syndrome

Iintsana ezininzi ezine-hydrolethalus syndrome ziyaqatshelwa ngaphambi kokuba zizalwe yi-ultrasound yokubeleka. I-hydrocephalus kunye neengqondo zengqondo zibonisa ukuxilongwa.

Ukuvavanywa okuvaliweyo kwe-fetus nge-ultrasound, okanye umntwana ekuzalweni, kuyadingeka ukulawula i-syndromes efana ne- Meckel syndrome , iTrisomy 13 , okanye i-Smith-Lemli-Opitz syndrome.

Outlook

Ngokuqhelekileyo umntwana kunye ne-hydrolethalus syndrome uzalwa ngaphambi kwesikhathi. Phantse i-70% yabantwana abane-syndrome basweleke. Abo bazalwa bephila abahlali ixesha elide.

_Imithombo

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

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