
krausoon syndrome

branchiyal aarch syndrome ennariyappedunna oru autosomal dominent janithaka thakaraaraan krausoon syndrome. prathyekichum, eee syndrome maxillayudeyum mandibilinteyum munnodiyaaya aadyathe branchiyal (allengil farriengial) kamaanathe badhikkunnu. valarunna bhroonathile pradhana vikasana savisheshathakalaan shaakhakalude kamanangal ennathinaal, avayude vikasanathile thadassangal shaashwathavum vyapakavumaaya phalangal srishtikkunnu.
eee rogaavasthayekkurichu aadyamaayi vivaricha franch doktaraaya okdevu chrousoninte peraanu eee syndromine nalkiyirikkunnath. aadyam "craniophasial disostosis" ("craniophasial" thalayotty mukhatheyum soochippikkunnu, "disostosis" asthiyude vaikalyatheyum soochippikkunnu) ennu vilikkappedunna eee thakaraarinte savisheshatha athinte munnaamathinte adisthaana ardhangalaal vivarikkan kazhiyunna niravadhi klinikkal savisheshathakalaan. chromosome 10-ll sthithicheyyunna fibroblast groth factor risapttar 2 ("efgfr 2")-leeii oru mutation moolamaanu eee syndrome undaakunnath. valarunna garbhapindatthinte thalayottiyum mukhathe ellukalum neratthe fuse cheiyukayo vikasippikkaan kazhiyaathirikkukayo cheiyunnu. athinaal, saadhaarana asthi valarcha sambhavikkilla. vyathyastha thunnalukalude samyojanam thalayottiyude asaadhaaranamaaya valarchayilekku nayikkunnu.
adayaalangalum lakshanangalum.
krausoon syndrominte nirnnayaka savisheshatha chraniosinostosis aanu, ithu asaadhaaranamaaya thalaykku kaaranamaakunnu. frondall bosing, trigonosephaly (mettopik thunnalinte samyojanam), brachisephali (coronal thunnalinte samyojanam), dolicosephaly (saagittal thunnalinte samyojanam), polagiosephaly (lambdoidinteyum coronal thunnalukaludeyum ekapaksheeyamaaya akaala adachupoottal), ooksisephaali (coronal, lambdoidal thunnalukalude samyojanam), sankeernamaaya chraniosinostosis (chila allengil ellah thunnalukalum akaalathil adachupoottal) ennivayude samyojanathilaan ithu kaanappedunnath.
exophthalmos (chuttumulla asthikalude aadyakaala samyojanathinu sesham aazhamillaatha kannu sokkattukal kaaranam annukal veerkkunnu), hypertellorism (annukal thammilulla saadhaarana doorathekkaal kooduthal), sittichorhina (kokku polulla mookk) ennivayum valare saadhaarana savisheshathakalaan. pala kesukalilum kaanapedunna mattu mukha savisheshathakalil baahya strabismus, hypoplastic maxilla (midfaceinte aparyapthamaaya valarcha) enniva ulppedunnu, ithu aapekshika mandibular prognaathisatthinu (neendunilkkunna thaadi) kaaranamaakukayum rogikk oru konkevu mukham ullathinte prabhavam nalkukayum cheiyunnu.
mikka lakshanangalum asaadhaaranamaaya thalayotti gadanaykku dvitheeyamaanu. krausoon syndrome ullavaril ekadesham 30 sathamaanam perkkum hydrocephalus vikasikkunnu. chila kesukalil censorinural kelvikkuravu undakam. kanninte sokkattukalil annukal cherunna reethiyile asaadhaaranathakal kazhcha prashnangalkk kaaranamakum, athil ettavum saadhaaranamaayath cornia exposuraanu, athu kazhcha vaikalyathilekku nayichekkaam. eee avasthayulla chila aalukalkk niyantritha shwaasanaalam undu, avarkk shwasanathinu gurutharamaaya prasnangal anubhavappedaam.
idungiya/uyarnna kamaanamulla annaakk, pinbhaagathe ubhaykakshi crossbite, hypodontia (kurachu pallukal nashtappettu), pallukalude tirakk ennivayaanu saadhaarana savisheshathakal. maxillary hypoplasia kaaranam, krausoon syndrome ulla aalukalkk saadhaaranayaayi sthiramaaya underbite undu.
kaaranagal.
nilavile gaveshanam soochippikkunnathu fibroblast groth factor resepterukal (efgfr) efgfr 2, efgfr 3 ennivayaanu autosomal dominent krausoon syndrome undakkunnathinulla pradhana gadakangal. bhroona vikasana samayat austioblaast deferentiationil earppedunna naalu fibroblast valarchaa ghadaka resepterukalil randaanu eee rund transmembran proteinukal; eee resepterukal thammilulla mutationukal niravadhi janithaka vaikalyangalil ulppedunnu.
ariyappedunna 40 mutationukal undu, avayil bhooribhaagavum oru missense mutation moolamaanu undaakunnath. exon 9 leeii sisttain 342-ll kaanapedunna oru missense aaya efgfr 2 aanu ettavum saadhaaranayaayi parivartthanam cheyyappedunna jeane, ithu oru pravartthana nettam srishtikkunnu. efgfr2 jeeninte exon 3-nte badal spliesing vazhi srishtikkappetta efgfr2ellc isophome exon 9 upayogikkunnu, ithu messenkymal stem cellukalil osifikkeshan niyantrikkaan upayogikkunnu. ennirunnaalum, sisttain 342 nashtappedunnathu moolam thettayi roopappetta disulfide bondiloode parivartthanam transmembran proteine gadanaaparamaayi sajeevamaakkunnu. bhroona vikasana samayat frondall asthikalil efgfr 3 kooduthal prakadippikkukayum thalayotiyile asthikalude vikasanathe nayikkukayum cheiyunnu. oru pooyint mutation proteente cytosolic mekhalayil sthithicheyyunna aaktiveshan looppil tyrosine constitutive aaktiveshan undaakkunnu, ithu frondall austioblaastukalu thwarithappeduthiya vyathyaasathilekku nayikkunnu, ithu frondall craniel asthikalude akaala samyojanathinu kaaranamaakunnu.
roganirnayam.
shishuvinte shaareerika roopam vilayiruthunnathiloode saadhaaranayaayi jananasamayath krausoon syndrome roganirnayam sambhavikkam. krausoon syndrome roganirnayam sthireekarikkaan radiographukal, magnetic resonance imaging (emm. aarr. aii) scanukal, janithaka parisodhana, sidi scanukal ennivayulppedeyulla kooduthal vishakalanangal upayogikkaam.
chikitsa.
thalayottiyude thunnalukal adaykkunnathu thalachorinte vikasanathe nasippikkunnathil ninnu thadayaan sasthrakriya saadhaaranayaayi upayogikkunnu. shasthrakriyayillaathe, andhathayum boudhika vaikalyavum saadhaarana falangalaanu. chikilsayillaathe, krausan syndrome kelvishakthi nashtappedunnathinum kazhcha nashtappedunnathinum, exposure keraattaitis allengil kanjankttivittis, cornia varandupookuka, hydrocephalus, sleep apnia, shwasana prasnangal ennivaykku kaaranamakum. bhramanapathangal munnott neekkaan, shasthrakriya vidagdhar thalayotty bhramanapathangaleyum thurannukaattukayum elline punarnirmmikkukayum cheiyunnu. midfaceinte kuravu chikilsikkunnathinu, shasthrakriya vidagtharkku thaazhathe bhramanapathavum midface asthikalum munnott neekkaan kazhiyum. koodaathe, thalayottikkullile sammarddam ozhivaakkaanum villal chundo annaakkukalo sariyaakkaanum vikruthamaaya thaadiyellu sariyaakkaanum valanja pallukal nereyakkaanum allengil kanninte prasnangal sariyaakkaanum sasthrakriya nadatthaam.
krausoon syndrome ulla aalukalkk onniladhikam thunnalukal ulppedunnu, prathyekichu ubhaykakshi coronal chraniosinostos, ooppan wolt sarjari allengil strip chraniactomy (kutty 6 maasathil thaazheyaanenkil) nadatthaam. pinneedulla saahacharyathil, shasthrakriyaykk sesham niravadhi maasangal helmet dharikkunnu.
craniel wolt asaadhaaranathakalkk chikithsichukazhinjaal, krausan rogikal saadhaaranayaayi oru saadhaarana ayuss nayikkunnu.
epidemiology.
oro 100,000 aalukalilum 1.66 perkku krausoon syndrome undaakaarund ennaanu nilavil kanakkaakkappedunnath. ithu ettavum saadhaaranamaaya chraniostenosis syndrome aanu.
charithram.
1912ll okdevu krausan aanu krausan syndrome aadyamaayi vivarichathu. rogabadhitharaaya rogikal oru amayum makalumaanennu addeham abhiprayappettu, ithu oru janithaka adisthaanathe soochippikkunnu.