
sneckenbeckon dysplasia

asthikaleyum prasavathinu munbulla valarchayeyum badhikkunna apoorvamaaya vamshapaarambarya autosomal resussive avasthayaanu sneckenbeckon dysplasia.
adayaalangalum lakshanangalum.
eee avasthayulla garbhapindangalkk saadhaaranayaayi oru ocha, cheria vaariyellukal, hraswa kazhuthu, cheruthum veethiyullathumaaya (displaastik) faibula asthikal, taarsasinte akaala oossifikkeshan, dumble, hypoplastia, paranna kasherukkal, macrosephaly, dolicosephaly, calviral hypoplasia, malar praadhaanyatthinte paranna avastha, micromelic (hraswa-kaii) kullan swabhaavam ennivayumaayi saamyamulla oru hypoplastic iliac asthi undu.
sankeernathakal.
eee avasthaykku kaaranamakunna garbhasthasishukkal saadhaaranayaayi janikkunnathin munbu marikkunnu, ekkaaranathaal avar saadhaaranayaayi rogathinte sankeernathakal anubhavikkan jeevikkunnilla.
janithakashasthram.
chromosome 1-ll sthithicheyyunna slc 35dii1 jeenile pravartthana nashtappedunna mutationukal moolamaanu eee avastha saadhaaranayaayi undaakunnath. eee mutationukal autosomal resussive reethiyilaan paarambaryamaayi labhikkunnath.
roganirnayam.
thaazhepparayunna reethikaliloode eee avastha nirnnayikkaan kazhiyum
chikitsa.
eee rogathinu chikilsayilla, eee avasthayude marakamaaya swabhaavam kaaranam chikitsa ellaayppozhum falapradamalla.
vyaapanam.
anaadhaalayathinte kanakkanusarichu 20ll thaazhe kesukal maathramaan report cheyyappettittullath.
charithram.
1986ll nolas thudangiyavar chernnaanu eee avastha aadyamaayi kandethiyathu. rakthasammardhamulla aadya cussin eshyan dambathikalkku janicha 5 garbhapindangalekkurichu avar vivarichu. eee dambathikal 13 garbhadhaaranangaliloode kadannupoyi, eee garbhadaaranangalil 4 vijayakaramaya garbhadaaranangal ulppedunnu, athu aarogyamulla kuttikalkk kaaranamaayi, 5 garbhadaaranangal maricha kullan kunjungalkku kaaranamaayi, 3 garbhadaaranangal garbhachhidrathil avasaanichu, 1 garbham, prasavathinu munbu kullan ennu kandethiyathin sesham klinikkal garbhachhidram nadatthi.
epomine.
snell-pelvis" (sneckenbeckon) ennathinte jarmman vivarthanathinte perilaanu eee avastha ariyappedunnathu, eee peru aadyamaayi upayogichathu borochovits mattullavarum aanu. avar eee rogathinte lakshanangalulla oru californian garbhapindatthe vivarikkukayum aaa lakshanangale "sneckenbeckon dysplasia" ennu vilikkukayum cheythu.
mouse nokktu model.
2007ll hiroka mattullavarum. oru slc35dii1-nokktu mouse model srishticha pareekshanam, janithaka parivarthanatthinu heterosaigas elikal saadhaaranayaayi bandhapetta sankeernathakalonnumillaathe janikkumbol, eee parivarthanatthinu homocygus elikal avarude neo-nettal jeevithathil marichuvennu velippeduthi. randaamathe elikalkku micromelia, craniophasial boonn hypoplasia, kasherukkal parannukidakkuka, kadinamaayi neelamulla asthikal, iliac asthikal ennivayundaayirunnu, eee lakshanagal shengenbecken dysplasia ulla manushya bhroonangal anubavikkunnathin samaanamaanenn hiroka abhiprayappettu, koodaathe elikalil saadhaarana prasavathinu munbulla asthikooda roopeekaranathinu eee jeane pradhaanamaayirikkanam ennu nigamanam cheythu.

