
malpuke facial clifting syndrome

malpuke facial clifting syndrome, jyala malpuke syndrome kinwa gypsy type facial clifting syndrome asehi mhanatat, haah eka durmil janmajat syndrome aahe. chehnyavaril phaat (fatalele oth aanee talhusah chehnyavaril hadey aanee uutinmadhil konatyahi prakarche phaat), eka kadal appendage (eka 'manvi shepati'), vadhichi kamatarata, bauddhik aanee vikasatmak apangatva aanee mootrapind pranali (mootrapind) aanee purush jananendriyanchya vikrutee heey tyache vaishishtya aahe. hrudayachya vikrutee aanee itar sangadyanchya vikrutee dekhil asoo shakatat. yaa lakshansamuchchayache varnan suruvatila 1983 madhye georges malpuek aanee tyachya sahakanyanni kele hote. haah juberg-hayward lakshansamuchchyasobat anuvanshikdrushtya sambandhit asalyache manale jaate. mukh, mutrajanan aanee hadanchya visangatinshi sambandhit janmajat anuvanshik vikaranchya varnpatancha eka bhag mhanoon dekhil malpuech syndrome manla gela aahe. 3 emsee syndrome" mhanoon olakhalya jaananya yaa prastavit varnpatamadhye malpuek, michel aanee mingareli-carneval (osa) syndromecha samavesh aahe. kolek 11' aanee 'masp 1' janukanmadhil utparivartan heey yaa lakshansamuchchayache kaaran asalyache manale jaate. malpuek syndromeche praman adnyat aahe. varshacha namuna autosomal recessive aahe, jyacha arth syndromeshy sambandhit sadosh (utparivartit) januk autosomvar sthit aahe aanee jevha yaa sadosh janukanchya done pratee varshane midatat tevha syndrome udbhavato.
chinhe aanee lakshane.
malpuke syndrome haah janmajat aahe, joou janmachya velee disun yeto. heey chehnyavaril phaat mhanoon olakhale jaanare vaishishtya darshavate. phate oth aanee talhu mhanoon lakshansamuchchayachya prarambhik varnanat nirikshan aanee nondavale gele aahe, chehnyavaril phate heey oth aanee talhusah chehnyavaril hadey, snayu aanee uutinmadhil fatedware olakhale jaate. samanyatah malpuke syndromes disanare fatalele oth aanee talhuche prakar mhanje madhyaresha (oth aanee talhuchya madhyabhagi) kinwa dwaipakshik (tond aanee talhuchya donhi bajunna prabhavit karane). chehnyachya fatyat samanyatah tivratechya vistrut shrenicha samavesh hoto, jyat bifid (split) yuvula sarkhya kirkol visangatinpasun teey fatalele oth aanee talhuparyant, chehnyachi hadey aanee mauu uutinchya pramukh vikasatmak aanee sanrachanatmak doshanparyantcha samavesh asato. bhrunjanan darmyan oth aanee talhuche fatane hote. yaa lakshansamuchchayasah varnan kelelya atirikt chehnyachya aanee ortho-dental visangatinmadhye hypertallorism (asamanyapane rund-sanch dolhe, kadhikadhi telecanthus mhanoon nondavale jaatat), papanyanche arund palpabral fisher (varchya aanee khalchya papnyanmadhil vegalepana) aanee tossis (jhukane), synophrisus frontal bossing (pramukh bhuvayanchi katkat), atyant kamaniyukt bhuvaya, rund anunasik mool aanee sapat anunasik toke, maleria hypoplasia (varchya gaal hadancha avikasit bhag), micrognathia (eka qamee aakaracha khalcha jabada) aanee pramukh chhedanbindu yancha samavesh aahe. shravanvishayak visangatinmadhye kanachi vadhaleli katkati aanee janmajat otitis mediashi sambandhit shravanadosh (kinwa 'gond qaan', madhalya kanachi jaljal) aanee sanvedanatmak shravanshakti qamee hone yancha samavesh hoto.
malpuke syndromeche aanakhi eka vaishishtya mhanje kadal appendage. coddle appendage hii coxics (shepatichi haad) pasoon udbhavnari janmajat vaadh aahe. anek amanaviy pranyanchya prajatinmadhye eka vaishishtyapurn shepati mhanoon aadhalanare heey vaishishtya jevha arbhkamadhye disate tevha tyache varnan 'manvi shepati' asey kele jaate. heey brazilmadhil teen vyaktinmadhye gyon-almeida (1995) neey pahile. ksh-kirananvaril upang heey coxicsche pramukh baher padane mhanoon vegvegalya prakare disun aale. sharirik tapasani kelyavar, angansh pranyanchya shepatichya gathisarkhya gathisarkha disato.
bauddhik apangatva, shikanyatil apangatva, vaadh mandavane aanee vikasas vilamb yasarkhya kamatarata samanya aahet. yaa lakshansamuchchayasah nondavalelya mansik abhivyaktinmadhye mansik vartan, obsessive-compulsive disorder, pratibandh qamee hone, atisakriyata, aakramakta, sharirik samparkachi bheeti aanee ikolaliyasarkhya (dusya vyaktine bolalelya shabdanchi punaravrutti) anivarya krutincha samavesh hoto. majjatantusambandhi sankochan dekhil nondavale gele aahe.
mutrajanan sambandhi vikrutee kinwa mootra aanee punarutpadak pranalinvar parinam karananya vikrutee yaa lakshansamuchchayavaril samanya aahet. malpuech aanee itar. (1983) aanee kerstjens-frederickse aanee itar. (2005) prabhavit purushanmadhye micropanis, hypospadias (mootra mansache janmajat apbhransh), cryptorchidism (ectopic kinwa undicend vrushan), befeed (vibhajan) aanee avikasit andakosh aanee eka avarodhak mutramarg zadap vividh prakare nondavali gelee. reardon aanee itaranni dekhil eka prabhavit mulachi nond kelee. (2001) davya mutrapindachya agenesis, eka vadhaleli aanee khalchya dishene visthapit jhaleli ujavi mootrapind, guptakendritata aanee shaal andakosh. yaa lakshansamuchchayasah nondavalelya itar vikrutee mhanje omphalocel aanee nabhicha antargrahan.
malpuke syndromes hrudayachya janmajat vikrutee dekhil disun aalya aahet. nirogi japani jodpyatil, chinan aanee naritomi (1995) yanni sahavya mulache varnan kele, jyachi vaishishtye yaa vikaras anuroop hotee. yaa done mahinyanchya narr arbhakala paytant ductus arterios (pii. dii. aii.) aanee ventricular septal dosh yasah hriday vikrutincha dekhil parinam jhaala hota. pii. dii. aii. shhee sambandhit ductus aarteriosasmadhil chhidra vayachya 38vya divashi balamadhye shastrakriyedvare durust kele gele hote. balamadhye lambdoid shivananvaril krumichya hadansah anek kirkol sangadyanchya vichalananchi nond jhaali.
anuvanshiki.
3 emsee syndromechya vicharatil itar vikaranpramanech, malpuech syndrome haah 'kolek 11' aanee 'masp 1' janukanmadhil utparivartananmule hoto. roric aanee itaranchya tapasat. (2011), 3 emsee syndromene prabhavit akra kutumbancha abhyas karnyat aala, jyacha parinam yaa done utparivartananchi olakh patavanyat jhaala. donhi januke lectin purak margachya prathinanna sanketikrut karatat, jee manav aanee itar prajatinmadhye janmajat kinwa vishisht nasalelya pratikarshaktichya purak pranalimadhye bhoomika bajavate.
kolek 11" kinwa "see. ell.-keey. 1" januk heey manavanmadhye gunasutra 2 (2p25.3) chya chhotya bahuvar sthit aahe. see. ell.-keey. 1 prathine hii see-prakarchi lectin aahe aanee yaa prathinanchya sangrahit kutumbatil aahe. janmajat pratikarshaktimadhye tyachya bhoomikevyatirikt, prathine heey bhrunjanan darmyan chraniophacial cartilage, hriday aanee mootrapind yasah uutinchya vikasat sameel asalyache manale jaate. chehnyachya vikasatil yaa karyala zebrafishchya abhyasadvare pushti denyat aalee, jithe tyachya "see. ell.-keey. 1" chya aavruttitil utparivartananmule chraniophacial vikruteenna (jase qee chraniophacial phaat) kadachit neural crest peshi sthalantaratil trutinshi sambandhit yogdan dile.
masp1" kinwa "mannan-binding serine protease I" januk manvi gunasutra 3 chya lamb bahuvar 3 kyu27-kyu28 varr sthit aahe. prathine heey mannan-binding lectin navache eka prakarche connectin aahe, jeey etch. aay. vhee. saha vishanusarkhya rogjankanshi bandhun janmajat pratikarshaktimadhye bhoomika bajavate.
sirmasi aanee itaranni varnan kelyapramane. (2010), chehnyavaril vikrutee aanee eka kadal appendages 3 emsee syndromechi vividh vaishishtye asalelya done raktavahinya asalelya kutumbatil teen turkey vyaktinche (chulat bhavandansarkhya natevaikanchi mule raktavahinya asalelya kutumbatil asalyache mhatale jaate) moolyankan karnyat aale. januk nakashadvare samaroop gunasutranchya tapasanit donhi kutumbanmadhil gunasutra 3q27 madhye eka swayam-nirjaliy pradesh (gunasutravaril eka sthan jethe janukatil donhi elil samaan purvajankadun udbhavtat) disun aala. eka kutumbat, yaa thikani 'masp 1' madheel missense utparivartanamule januk kramamadhye 687 vya sthanavar aarjinindware amino acid glycinechi jaaga ghetali gelee. utparivartan nirikshan kelelya phenotypes ektrit kele jaate. dusya kutumbatil vyaktinmadhye, 'masp1' chya dna sequencingmadhye eka murkhpanache utparivartan disun aale jyacha parinam janukatil 290 vya sthanavar tryptophane nishkriy honyat jhaala, jeey dekhil phenotypes cosegrated hote. donhi utparivartan aay. jee. eff. bii. pii. 5 prakriya karnyasathi olakhalya jaanarya "masp 1" chya swarupat hotat; "masp 1" chya utparivartanashi sambandhit heey karya qamee jhalyamule garbhakalin kalat chraniophacial aanee musculoskeletal vikasadarmyan insulinsarkhya vadhichya ghatakachya upalabdhatet vyatyay yeto. heey parinam soochit karatat qee "masp1" madheel utparivartan heey malpuke syndromes vikrutee vikaransah aadhalanaya anek vaishishtyansathi jababdar aahet.
lakshansamuchchay autosomal recessive paddhatine varshane midale aahe. yacha arth yaa vikarasathi jababdar sadosh januk (kolek 11, masp 1) heey autosomvar sthit aahe (gunasutra 2 aanee 3 heey autosome aahet) aanee sadosh janukanchya done pratee (pratyek palkankadun varshane midaleli eka) yaa vikarasah janmala yenyasathi aavashyak aahet. autosomal recessive disorder asalelya vyaktichya palakanna doshpurn janukachi eka prat asate, parantu sahasa tyanna yaa vikarachi konatihi chinhe kinwa lakshane anubhavat naheet.
nidan.
asey suchavale jaate qee malpuke syndromechya nidanatmak nikashanmadhye fatalele oth aanee/kinwa talhu, vishisht sambandhit chehnyachi vaishishtye aanee khalilpaiki kiman done samavisht asavetah mutrajanan visangati, coddle appendage aanee vaadh kinwa vikasas vilamb.
yaa vikarat aadhalanaya shravanadoshachya tulanene uchch daramule, nidanat tyacha dekhil vichar keela jaau shakato. aanakhi eka janmajat vikar, wolf-hirshorn (pitt-roggers-danks) syndrome, tyachya nidanatmak nikashanmadhye malpuke vaishishtye samayik karato. yaa bhinnatechya abhavamule, donhimadhye farak karnyasathi cariotyping (vyaktichya gunasutranche sookshm vishleshan) vaparale jaau shakate. gunasutra 4 chya chhotya bahumadhil vilopan heey wolf-hirshorns ughad kele jaeel, tarr yaa vichalanashivay cariotype heey malpuke syndromechya nidanas anukool asel. tasech, keval malpuke syndrome asalelya vyakticha cariotype samanya asel.
vargikaran.
malpuek syndromedhye itar anek anuvanshik vikaranshi sharirik kinwa phenotypical samanata asalyache disun aale aahe. reardon aanee itarancha ahwal. (2001) malpuke syndromeshy susangat asalelya chehnyavaril, kadal aanee mutrajanan visangati darshavina nauu varshanchya mulache, jyala juberg-hayward syndromeche soochak sangade vikrutee dekhil hotya, asey suchavate qee done vikar elelic asoo shakatat (ekach janukatil vegvegalya utparivartananmule).
samaan kinwa parasparvirodhi vaishishtye aanee autosomal recessive inheritance asalelya itar anek vikaransah, malpuech syndrome haah "3 emsee syndrome" yaa sandnyekhalil manla jaato. titomenlio aanee itar. (2005) yanni michel syndrome asalelya teen varshanchya muliche varnan kele. michel, malpyuch aanee mingareli-carnival syndromedhil sharirik samanatanchya tyanchya punaravalokanat-visheshtah phate oth aanee talhu aanee tosisachya udaharanansah chehnyache swaroop aanee janmajat otipot aanee mutrajanan visangatinchi samanata-tyanna asey vatale qee syndrome teen vaiyaktik vikaranaivaji anuvanshik vikaranchya varnapat darshavu shakatat. suruvatila tyanni suchavale qee yaa varnapatala 3 emsee (michel-malpuek-mingareli-carneval) syndrome asey naav dile jaau shakate. haah nishkarsh aanee 3 emsee syndrome yaa nawala leal aanee itaranni pathimba deela hota. (2008), jyane eka bhau aanee bahineela vividh lakshananchi eka shreni asalelya lakshananchi nond kelee. 3 emsee syndromecha aanakhi dawa roric aanee itaranni keela. (2011) tyachya karyachya vistarat.
vyavasthapan.
malpuke syndromedhye aadhalanaya anek janmajat vikrutee shastrakriya karoon durust kelya jaau shakatat. yamadhye fatalele oth aanee talhu, omphalocel, mutrajanan aanee chraniophacial vikrutee, kadal appendage kinwa scoliosis sarkhya hadanchya vikrutee aanee nabhichya andakoshancha samavesh hoto. malpuke syndromes janmajat vikar asalelya navjat shishula lagoo kelelya yaa prakriyansathi chinteche prathamik kshetra bhool denyachya rasdashi sambandhit aahe. samanya bhool denyachya darmyan vayumarg vyavasthapanasathi shwasanaliket antardnyan yasarkhya paddhatinmadhye arbhakachya aanakhi lahan kinwa vikrut tondamule adthala yeu shakato. pradeshik bhool denyasathi, jethe scoliosis aahe tethe pathicha kanaa rokhane yasarkhya paddhati adhik katheen asatat. 2010 madhye kirnan aanee itaranchya ahavalat.malpuke syndrome asalelya chaar varshanchya muleela asambandhit tonsililectomy aanee adenoedectomysathy tayar kele jaat hote. antahsravi nalee basavanyasathi vayumarg olakhanyasathi aavashyak asalelya swarayantrikechya antargrahanachya darmyan, yaa lakshansamuchchayamule honanya sukshmagambhiratechya upasthitimule trasdayak jhaale. samayojit aakarachya swarayantradvare badallyanantar, antargrahan samanyapane pudhe gele. tyanantar yashasvi samanya bhoolbhulaiya denyat aalya.
malpuek syndrome asalelya purushacha durmil pathpurava priyolo aanee itaranni sadar keela. (2007). anpekshit garbhadharana aanee prasutipasoon mudatpurv janmalelya balala fatalele oth aanee talhu yanchi shastrakriya karoon durusti karavi lagali. yaa prakriyet konatihi samasya nondavali gelee nahee. hrudayachi vikrutee, alindatil septal dosh dekhil spasht hota parantu konatyahi hastakshepachi aavashyakta navhati. vayachya teenavya varshi, bauddhik apangatva, atisakriyata aanee obsessive compulsive disorderche nidan jhaale; vayachya sahavya varshi shravanadoshache nidan jhaale, shravan sadhananchya vaparane vyavasthapit kele gele. tyanantarchya dashakat anek manasopacharvishayak moolyamapan karnyat aale. vayachya 14 vya varshi, tyane sharirik samparkachi bheeti darshavili; vayachya 15 vya varshi, tyane eka gambhir mansik prakaran anubhavale, jyache vaishishtya mhanje aandolan aanee samajik laingik pratibandh gamavane. yaa lakshananvar aushadhashastriy upchar kele gele (prescription aushadhansah). vayachya 17 vya varshaparyant tyane anivarya ikolaliyachya kshanansah mansik kamataratechi patali qamee thewali.
itihas.
malpuek syndromeche praman nishchit kele gele nahee. chrispony aanee itarancha 1999 chaa ahwal. asey suchavale gele qee tyaa velee jagbharat keval 12 vyakti yaa vikarane prabhavit hotya. 1983 madhye gillium malpuech aanee tyanchya sahakanyanni yaa lakshansamuchhayabaddal pahilyanda nond kelee, gypsy kutumbatil anirdisht ling asalelya chaar mulanmadhye heey disun aale. mulanmadhye teen bhawande aanee tyanche pahile chulat bhau hote; kutumb atyant raktaranjit mhanoon olakhale jaat hote.