acrocephalocyandactaly

acrocephalocyandictaly haah autosomal prabal janmajat vikarancha eka gut aahe jyache vaishishtya chraniophacial (chraniosynostosis) aanee haat aanee paay (syndactly) vikrutee aahet. jevha polydactyly asate, tevha vargikaran acrocephalopolycindactic asate. acrocephalocyandactile nidan pramukhyane janmanantar kele jaate, jaree utparivartan heey kautumbik genomemadhe asalyache dnyat asalyas prasutipoorv nidan shakya aahe. upcharanmadhye anekada lahanpanapasunach chraniosynostosis aanee syndactly durust karnyasathi shastrakriya samavisht asate.
vaishishtye.
acrocephalocyandactaly anek vegvegalya upprakaranmadhye aadhalate, tathapi, lakshananmadhye lakshaniy ativyapti hote. samanyatah, serve prakarchya acrocephalocyandactal vaishishtya mhanje kapal, haat aanee payatil vikrutee, jase kavatichya vishisht hadanchya darmyan tantumay sandhe akali bund hone, vishisht bote kinwa bote yanche mishran aanee/kinwa ankanchya samanya sankhyepeksha jaast. kahee upprakaranmadhye janmachya velee upasthit asalelya sanrachanatmak hriday vikrutincha dekhil samavesh asato.
kaaran.
acrocephalocyandactaly kinwa acrocephalopolycindactic bahutek prakar autosomal dominant patternmadhye varshane midatat, jyat autosomal recessive paddhatine varshane midalelya sutar syndromecha samavesh nahee. vegvegalya janukanmadhil dii-novo utparivartananmule anek prakarche acrocephalocyandictaly hotat asey nondavale gele. dnyat anuvanshik badalanmadhye, fibroblast groth factor receptor (eff. jee. eff. aar.), twist 1 aanee rabb 23 yasarkhya janukanmadhye utparivartan hote. anuvanshikdrushtya varshane midalele acrocephalocyandactaly vikar heey serve serve abhivyaktisaha uchch teey sampoorn pravesh darshavtat. kahee prakarananmadhye vadilanche vadhalele vay haah dhokyacha ghatak manla jaato.
nidan.
prasutipoorv nidan.
acrocephalocyandictyl kahee prakaranmadhye prasutipoorv nidan haah eka paryay aahe. yaa lakshansamuchchayasathi jababdar januk utparivartan dnyat asel aanee rogas karanibhoot honare utparivartan kautumbik genomemadhe olakhale gele asel tarach prasutipoorv anuvanshik nidan shakya aahe. heey amneocentasis kinwa corionic vhilasa samplingcha vapar karoon kele jaau shakate, jeey anukrame amneotic drav kinwa placental peshinmadhil bhrun stame peshinchi chachani karatat. bhrun tapasanicha vapar karoon eppert syndromeche prasutipoorv nidan jhalyache prakaran samore aale aahe. vaikalpikaritya, garbhachya kavatichya vikrutee shodhanyasathi ultrasoundsarkhi aakramak nasaleli tantre vaparnyat rus aahe.
prasutinantarche nidan.
acrocephalocyandactal bahutek nidan balachya sharirik lakshananche moolyankan karoon janmanantar hote. ksh-kiran pratimesarkhya radiographic mulyankanasaha aanee rogas karanibhoot asalelya dii. aine. aii. utparivartanancha shodh shodh aanvik anuvanshik chachanidware yala samarthan dile jaau shakate. aanvik anuvanshik chachani samanyatah "eff. jee. eff. aar.", "twist 1" aanee "rabb 23" janukanmadhye hote.
namkaran/vargikaran.
acrocephalocyandactaly aanee acrocephalopolycindactic yaa chhatrakhali vividh lakshananmadhye konatehi susangat namkaran kinwa vargikaran nahee. jaree 18 vya shatkachya suruvatilach acrocephalocyandactal nondavale gele asale taree acs aanee acps vargikaran keval 20 vya shatkachya uttaradhat aale. tathapi, heey vargikaran kalbahya jhaale asel kaaran asey suchavale gele aahe qee acrocephalocyandactaly aanee acrocephalopolycindaly yanchyatil farak mitavala pahije.
sadhya, noek syndrome (aii. see. pii. ess. prakar I) aata fifer syndrome (aii. see. ess. prakar v) mhanoon vargikrut keela gela aahe; goodman syndrome (aii. see. pii. ess. prakar IV) heey sutar syndromeche (aii. see. pii. ess. prakar II) rupantar mhanoon vargikrut kele gele aahe; aanee vividh sanshodhakanni eppert (aii. ess. see. prakar I), crousion (aii. ess. see. prakar II) aanee fifer (aii. ess. see. prakar V) syndrome yanna eppert-crousion aanee crousion-fifer syndromedhye ektrit kele aahe.
acrocephalocyandactaly prakar IV laa purvi mohar syndrome asey mhatale jaat hote, tathapi, nantar tyache vargikaran orophasiodigital syndrome prakar II antargat karnyat aale. fifer syndrome haah purvi prakar vi aanee wardenberg prakar v hota, parantu 1966 nantar kahee kalanantar heey badalale gele.  
acrocephalocyandictaly (acs):
eka sambandhit sandnya, acrocephalopolycindactic (aii. see. pii. ess.), sadarikaranat polydactylicha samavesh sandarbhit karate. tyache anek prakar dekhil aaheth
upchar.
chraniosynostosis.
chraniosynostosis asalelya upprakaransathi, coronal shivan (brackisefly) sarkhya kapalavaril shivanyanche akali mishran rokhanyasathi shastrakriya aavashyak aahe. intracranial daab vadhalyamule menduchya vadhimadhye honare adthale talhanyasathi aayushyachya pahilya varshi chranioplasty kelee pahije. yavyatirikt, visheshtah ektarfi coronal cyanostosismadhye (anterior plegiocephaly), swaroop sudharanyasathi shastrakriyechi aavashyakta asoo shakate. shwasan aanee orthodontic samasya sudharanyasathi kavatichya urvarit bhagapasoon madhyabhag vegale karnyasathi balpanat madhyabhagavaril shastrakriyechi dekhil aavashyakta asoo shakate.
syndactly.
vishisht upprakaranmadhye syndactly kvachitach hatanchya karyavar parinam karnyasathi purese gambhir asate, mhanoon upcharanchi aavashyakta bhasanar nahee.
eppert syndromedhye disalyapramane, adhik gambhir upprakaranmadhye, syndactalychya shastrakriyechya durustichi aavashyakta asoo shakate. shastrakriya shakya titkya lavkar, samanyatah vayachya 4 mahinyant karanyachi shifaras kelee jaate. upchar heey syndactalychya tivratevar avalambun asate. shastrakriyechya upcharanmadhye samanyatah aantar-digital webspace releases aanee angatha lamb karane samavisht asate.

