vikasatmak deree aur acanthosis nigricans key saath gambhir acondroplasia

vikasatmak deree aur acanthosis nigricans (sadan) key saath gambhir acondroplasia ack bahut hii durlabh aanuvanshik vikaar haye. yeh vikaar vaha haye joe huddy key vikas koo prabhaavit kartaa haye aur isaki visheshta kankal, mastishk aur twacha kii asaamaanyataaen hain. iss vikaar seey prabhaavit loga oonchaai mein gambhir roop seey chhote hotey hain aur aamtaur parr unake haath aur pair chhote hotey hain. isake alawa, pairon kii haddiyaan aksar jhukati hain aur prabhaavit logon kii chhaati chhoti hoti haye aur pasaliyon kii haddiyaan chhoti hoti hain, saath hii saath mudey hue collerbone bhee hotey hain. vikaar key anya lakshnon mein chaudi ungaliyaan aur baahon aur pairon parr twacha key atirikt modd shamil hain. vikasatmak roop seey, kaee vyakti joe vikaar seey peedit hain, way deree aur akshamta mein uchch star dikhaate hain. mastishk kii sanrachanaatmak asaamaanyataon key kaaran daure bhee aam hain. prabhaavit loga alpaavadhi key liye saans kii dheemi gati yaa haani, apania seey bhee peedit hoe sakate hain.
sadan kii kaee visheshtaen anya kankal vikaaron, vishesh roop seey acondroplasia aur thanatophoric dysplasia mein dekhi jaane vaali visheshtaon key samaan hain.
acondroplasia chhote anga vaale baunepan kaa ack roop haye. iss prakaar kaa baunapan kankal key upaasthi kii asthimajja mein asamarthata aur huddy mein badalane key kaaran hotaa haye. acanthosis nigricans ack twacha kii sthiti haye jisamen twacha key kshetra kaale aur makhmali rung key hotey hain, joe aksar shareer key taha aur daraaron jaise buggle, groin aur gardan mein dekhe jaate hain. sadan seey prabhaavit logon key bheetar, acanthosis nigrican jaldi vikasit hotaa haye, aamtaur parr bachpan yaa shuruati bachpan mein.
aanuvanshik.
vikaar key liye jimmedaar utparivartit jeane aff. jee. aff. aar. 3 jeane haye, vishesh roop seey; aff. jee. aff. aar. 3 jeane kaa ack ack missense utparivartan hii saddon kaa kaaran banata haye. yeh jeane ack protein key nirdeshon key liye code kartaa haye joe huddy aur mastishk key ootak key vikas aur rakharkhaav mein abhinn haye. iss jeane key utparivartan key kaaran protein atyadhik sakriya hoe jaataa haye, jisase iss vikaar kii kaee visheshtaen hoti hain.
sadan ack autosomal pramukh aanuvanshik vikaar haye. autosomal kaa arth haye kii utparivartan aur vikaar key liye jimmedaar jeane ack gair-ling gunasutra parr paaya jaataa haye aur yeh kii maan yaa pitaa yaa tou jeane koo paarit curr sakate hain, jabaki pramukh kaa arth haye kii vyakti koo vikaar honey key liye jeane kii kewal ack prati kii aavashyakta hoti haye.
yeh vikaar bahut durlabh haye aur duniya bhar mein kewal kuchh hii mamalon mein varnit kiya gayaa haye. jabaki vikaar aanuvanshik roop seey viraasat mein milaa hoe sakata haye, viraasat kaa koee udaaharan abhee taka darj naheen kiya gayaa haye. balki, pralekhit kuchh mamalon mein seey, vikaar seey prabhaavit vyakti kewal aff. jee. aff. aar. 3 jeane key yaadrichhik utparivartan key utpaad key roop mein prabhaavit hotaa haye, naa kii utparivartit jeane kii viraasat seey.
nidan.
chikitsa nidan kii aavashyakta haye. naidaanik pareekshan kiye jaa sakate hain, saath hii aanvik aanuvanshik pareekshan bhee kiya jaa sakata haye. upalabdh parikshanon mein shamil hainh
poore coding kshetra kaa anukram vishleshan
chuninda exons kii utparivartan scanning
chayanit exon kaa anukram vishleshan
vilopan/dohrao vishleshan
prabandhan.
sadan key saath jeevan prabandhaniya haye, halanki chikitsa, shalya chikitsa aur aajivan doctor nigrani kii aavashyakta hoe sakati haye.

