Klippel - Feil syndrome: ifoto, unyango, ukuze ube yintoni umphumo? Sprengel syndrome - Fail - Klippel: imithambo kwi swimming pool

Ezimbini luvo French Andre Feil kunye Moris Klippel ngo-1912, kuchazwe ngokweenkcukacha sengozini iziphene kwi emqolo wesibeleko-thoracic ebantwaneni. Bonke bephela wazalelwa abazali omnye segazi. KumaXesha Aphakathi, amaqabane zomthetho babenokuba ngisho nezihlobo. Ngoko ke, ukwanda kwale anomaly Ayimangalisi. ngezifo kamva yathiywa emva kokuba izazinzulu. Klippel - Feil syndrome ayikho isifo ngokupheleleyo. Sisifo azalwa, nto leyo ngokufuthi ekhokelela nezinye izinto ezimbi lialio.

Iimpawu zesi sifo

Phantsi syndrome Klippel - Feil ithetha ukuphazamiseka iziphene yomqolo wesibeleko, owakhiwa synostosis kunye nokunciphisa inani omqolo. Lubonakala yi ezineqondo eliphakamileyo ukubonakaliswa - icala elinye nganye nokuzala 120 000. Eyona nto lifana esi sifo luthathwa iphungulwe okuphawulekayo ubude entanyeni. Kwiimeko ezininzi, zikhatshwe zezinye ukungaqheleki kwenkqubo musculoskeletal nabanezinto ezingaqhelekanga iziphene amalungu zangaphakathi. Xa lokufunyaniswa kwesifo akuzi iingcali eziliqela :. Neurology, amathambo, imfuza, njl unyango Conservative kuquka unyango umzimba, physiotherapy nokuphulula. Kwiimeko ezinzima kakhulu ifuna utyando - uqhaqho tservikalizatsii.

Eyona eziphambili ezibangela malformations

Klippel - Feil syndrome libhekisela izifo zemfuza uzimisele. utshintsho yezifo emzimbeni kwenzeke kwiiveki zokuqala emva kokukhulelwa. Esinye sezizathu eziphambili oogqirha syndrome baphawula disorder zophuhliso umnqonqo kunye segmentation, ingakumbi kwinqanaba verhnesheykovom. Kwakhiwa thoracic synostosis kunye omqolo wesibeleko, ukunciphisa inani wabo, zidliwe izidumbu nonunion neengqameko kusenza sikwazi ukubona umfanekiso kwezonyango sifo. Iqela umngcipheko ibandakanya abantwana kunye ufuzo ntle, apho kukho:

1. I siphene yemfuza kwi zofuzo. Xa umntwana lokugula kukwaphula lokusekwa umahluko yokukhula kuyimfuneko ukuze uphuhliso ngokupheleleyo amathambo. Oku nakanjani kubonakala kuphuhliso amasebe omqolo thoracic kunye wesibeleko.
2. indlela Autosomal lubalaseleyo zelifa. Ukuba omnye umzali sikuye isibetho, amathuba okufumana umntwana abanala makhwiniba yi 50-100%.
3. ilifa Autosomal sofuzo. Kulo mzekelo, amathuba okufumana umntwana abanala makhwiniba ka-0-50%.

Ukuze uphephe abazali ilifa ntle kufuneka ukuba bajonge zofuzo ekukuyo ucwangciso umntwana.

Iimpawu imifuziselo onaso

Esi sifo luphawulwa oneziqu ezaziwa mpawu: emqaleni ngokugqithiseleyo emfutshane, ukuguqulwa impandla, ukushukumiseka eliqingqiweyo entloko. Esi sifo sidla kudityaniswe nezinye izinto ezimbi. Ngowe-30% yezigulane kutyhilwa zokufota, torticollis ifomu engqongqo, iincakuba aphezulu emi - isifo Sprengel. Kwezinye iimeko ezingaqhelekanga bokugcinwa imilenze aphezulu, deformation iinyawo, amazinyo, asymmetry yobuso, hyperopia. Ngowe-25% ezigulane kwafunyaniswa yokungeva ngeendlebe bekhubazekile.

Klippel syndrome - Fail - Sprengel - akukho kuphela wavakalisa siphene mhle. Kusenokwenzeka zikwaquka iimpawu luvo. Utshintsho kwi-CNS kombisa ukukhubazeka engqondweni, hydrocephalus, ukuxhuzula. Esemncinane ogulayo izihlunu ubuthathaka yesiqephu, ngokunjalo synkinesis. Maxa yobudala abadala, umfanekiso yezonyango okupheleleyo zincediswa utshintsho yesibini lomqolo.

iimviwo Medical

Ekungqinweni sifo zisekelwe triad ebona iimpawu, iinkcukacha zoviwo ngokwasemzimbeni kunye neemviwo zomculo. A indima ekhethekileyo uxilongo yanikwa ukufunda imbali yentsapho isigulane. Misela Klippel - Feil syndrome kunye inkcazelo eneenkcukacha lokuhamba mgaqweni mhlawumbi ngenxa yomsebenzi olulungelelanisiweyo lweengcali. Ngokuqhelekileyo, oko neurologists, zemfuza, orthopedists, cardiologists kunye pulmonologists.

Ukuvavanya uhlobo utshintsho eyabelwe ray vertebral. Uphononongo lwaqhutywa ezayo ezimbini, apho ezifundisayo abaninzi abanjalo ke lateral. Ngenxa yemeko uncharacteristic wethunzi ukhakhayi entloko kungqinelane umfanekiselo umhlathi spinal, iyenza nzima ukubona izinto. Ukongezelela, kucetyiswa ukuba ukuthatha imifanekiso iphezulu flexion / ukwandiswa entanyeni. Oku kukuvumela ukuba ukujonga xenga kunokwenzeka ununited omqolo kwaye uqinisekise syndrome Klippel - Feil. -X-reyi spine wesibeleko-thoracic kunceda ukuchonga:

• omqolo likhubazeke;
• ukuncipha kwenani labo;
• ngxubevange izidumbu vertebral;
• iincakuba nokuma engaqhelekanga;
• ugobile lomqolo.

Emva kokuqinisekisa lokufunyaniswa izigulane Ukongezelela amisiweyo ultrasound ngamalungu lwangaphakathi ukubona mgaqweni kubume. Phambi ukungaqheleki luvo kungafuna izitya Doppler ultrasound, angiography, EEG kunye MRI yomqolo wesibeleko. Kunyanzelekile ukuba adibane nogqirha-zofuzo u. Ngokutsho iziphumo zalo ingcali aya kuba nako ukujonga indlela ilifa, kunye nokuvavanya imingcipheko kwizizukulwana ezizayo.

Ifom osisiseko sifo

Klippel syndrome - Feil sisifo inqabile kakhulu. Ngokutsho manani, iimpawu ezithile abafunyenwe umntwana omnye ngaphandle 120 lamawaka. Le anomaly livela umguli kwenye iintlobo ezintathu:

• Ukunciphisa inani zentetho yomqolo wesibeleko, leyo aya ngcembe yaye abangaboniyo ngok entanyeni. Olu hlobo leengxaki kubangela ubunzima xa uhambisa entloko.
• Synostosis wesibeleko umqolo fusion kwisiqalo kunye ithambo Occipital. Esi sigulane asikwazi ungaguqukeli intloko yakhe ngaphandle intlungu. omqolo wesibeleko nentamo banye.
• Ifom yesithathu ngokubonakala sifo ziquka ezimbini zokuqala.

A uhlobo oluthile le syndrome kumiselwa ugqirha kuphela ngokusekelwe kwiziphumo zophando.

imigaqo esisiseko zonyango

Ngelishwa, yesilungu akunamandla okunikela iindlela owaneleyo indlela ecaleni ngokupheleleyo syndrome ka Klippel - Feil. Unyango ibandakanya nokuthintela uphuhliso sengozini eziziisekondari. Kwathathwa njengesiseko iindlela endala, eziquka unyango ngokwasemzimbeni kunye umyalezo. unyango ngamachiza inikwa kwimeko apho inkqubo sifo ihamba intlungu ukungaphatheki ucinezelo kweengcambu-luvo. Njengomgaqo, wasebenzisa analgesics, anti-ezithintela ukosuleleka kunye neziyobisi ezingekho-steroidal. ucinezelo elide yeengcambu-luvo zifuna uqhaqho. Eyona njongo iphambili yalo msebenzi - ukuba uza kuziphelisa zonke iintlungu iziphene ngokuyinxenye oluchanekileyo lwangaphandle.

unyango Physical kunye mithambo echibini

unyango olucacileyo syndrome ziquka ikhosi unyango emzimbeni, yokuthanjiswa kwezonyango yomqolo wesibeleko kwaye babizwa ngokuba indawo entanyeni. Uqheliso akhethelwe ngamnye, esekelwe kumfanekiso lwezonyango yesigulana. Ixesha lokuqala, kufuneka kwenziwe phantsi kweliso oyingcali, unako ke ngoko ugqithele kwizinto zasekhaya. Izigulane unesifo "Sprengel syndrome - Fail - Klippel" imithambo pool kusinceda ukuba siphephe ikhondo elinzima esi sifo. Njengomgaqo, izigulane abaselula, oogqirha bacebisa backstroke. imithambo ezintsonkothileyo wakhetha ngamnye. iingcebiso jikelele malunga imithambo lokudada ayikho.

unyango ngotyando

intlungu okuqhubekekayo okubangelwa nemithambo iingcambu ucinezelo yeyona ebonisa eyintloko ukuze uqhaqho. Izigulane unesifo "syndrome Klippel - Feil" ALS mandundu kunye nobudala. Ngoko ke, lo msebenzi yabelwa ngoko nangoko emva kokuqinisekisa ngezifo. Ukwandisa nokushukumisa entanyeni sisetyenziselwa tservikalizatsiya Bonola. Ngexesha inkqubo, ugqirha lisusa iimbambo aphezulu ezine periosteum ukuze kuncitshiswe uxinzelelo enyama yangaphakathi. Olu tyando lwenziwa kumanqanaba eziliqela. Ekuqaleni isuswe Iimbambo kwicala elinye, emva ukufunyanwa umzimba - kwenye.

ixesha Rehabilitation kufuna ixesha elininzi neenzame. Kwaqengqeleka iinyanga eziliqela, isigulane kufuneka baphumle. Noko ke, ukuba phezulu tyando kuyimfuneko. Okwangoku ke kuphela indlela ephumelelayo ulungise iziphene yangaphandle, kokuvela apho ichukumisa syndrome Klippel - Feil. Zintoni iziphumo impilo, ukuba sishiye unyango, ezichazwe ngezantsi.

Iingxaki abantu abane umguli

Emva kotyando kunye nokuvuselelwa xesha isigulane kunokukhokelela ubomi ngokupheleleyo. Le intamo kancinci ngeli xesha ukwanda ubude, apho, xa uthathela ingqalelo yobuhle lwembono, uthathwa umba kakuhle. Ukuba isigulane ngoyaba icebiso kagqirha sokubuyisela, umzimba uqalisa 'uphendule' iingxaki. Ubukhulu becala kuphuhliswa ngezifo ngamalungu angaphakathi, kukho iintlungu ukuzomelezela entanyeni. Edlulileyo ngenxa umthetho lomgadi iingcambu-luvo kwaye kunokukhokelela ukugqibezela obezdvizhevaniyu imilenze. umngcipheko Visceral lweenkqubo ayibuyiseki umva lwezidumbu, kwaye kusenokuba ngunobangela wokufa yokuqala.

amanyathelo othintelo

Ngaba kunokwenzeka ukuba ukuthintela syndrome ka Klippel - Feil? Photo kwezigulane ngale unesifo kwanyanzeleka ukuba bacinge ngawo lo mbuzo. Uthintelo engqalileyo yale sifo ayikho, ekubeni ilifa. Kwiintsapho apho iimeko kufuneka mgaqweni ezifanayo ziye abhalwe, kuyimfuneko ukuba genetic counselling na. kubume bayo amathumba phantsi beya kulibhala isibini ukulungiselela nendima yabazali, ukuvavanya ubungozi sifo.

Ngamafuphi

Klippel - Feil syndrome yinto anomaly naso yomqolo eliphezulu. Lubonakala yi oneziqu iimpawu zangaphandle eziliqela iimpawu radiology. Isifo uba abantu abane HIV kubalulekile, kodwa nokuphilisa kube nzima ngokupheleleyo. ungenelelo ngotyando ngexesha ukulungisa kuphela ivumela iziphako lwangaphandle ziyafumaneka. Ukuba ngaphambili kuqinisekiswe isizalwane esisondeleyo isifo esinjalo, uyacebiswa ukuba bangenele yokuhluza ngokupheleleyo yemfuza phambi kokuba ekhulelwe umntwana. Hlala uphilile!