atelostiogenesis, prakaar II

atelostiogenesis, prakaar II upaasthi aur huddy key vikas kaa ack gambhir vikaar haye. yeh durlabh haye, aur vikaar vaale shishu aamtaur parr mrit janm lete hain; joe jeevit rahate hain way janm key turant baad marr jaate hain.
lakshan aur sanket.
iss sthiti key saath paida honey vaale shishuon kii baahen aur pair bahut chhote hotey hain, chhaati sankeern hoti haye aur pett pramukh roop seey goal hotaa haye. iss vikaar kii visheshta munh kii chhat mein ack chhed (fatey hue taaloo), chehare kii vishisht visheshtaen, ack ander kii or aur neeche kii or mudane vaalaa pair (clubfoot), aur asamanya roop seey sthit angoothe (hitchhiker angoothe) hain.
atelostiogenesis, prakaar 2 key sanket aur lakshan, diastrophic dysplasia naamak ack anya kankal vikaar key samaan hain. halanki, atelostiogenesis, prakaar 2 adhik gambhir hotaa haye.
aanuvanshiki.
atelostiogenesis, prakaar 2, है। jeane mein utparivartan key kaaran honey vaale kankal vikaaron key ack varnakram mein seey ack haye. iss jeane dwara banaaya gayaa protein upaasthi key samanya vikas aur huddy mein isake roopaantaran key liye aavashyak haye. है। jeane mein utparivartan upaasthi key vikas kii sanrachana koo baadhit kartaa haye, haddiyon koo thheek seey banane seey rokta haye aur isake parinamswarup atelostiogenesis, prakaar 2 kii visheshta vaali kankal kii samasyaaen hoti hain.
yeh sthiti ack autosomal aprabhaavi vikaar haye, jiska arth haye kii doshpurna jeane ack autosome parr sthit haye, aur jeane kii dou pratiyaan-pratyek maataa-pitaa seey ack-iss vikaar key saath paida honey vaale bachche key liye viraasat mein millie honey chaahiye. autosomal aprabhaavi vikaar vaale bachche key maataa-pitaa vikaar seey prabhaavit naheen hotey hain, balki parivartit jeane kii ack prati key vaahak hotey hain.
sandarbh.
"iss lekh mein yuu seey saarvajanik domen paath shamil haye.aiss. rashtriya chikitsa pustakalaya "

