Klippel - Feil syndrome: isithombe, ukwelashwa, lokho imiphumela ingase ibe? Sprengel syndrome - Fail - Klippel: izivivinyo e-swimming pool

Amabili wezinzwa French Andre Feil futhi Moris Klippel ngo-1912, wachaza ngokuningiliziwe sengozini azalwa naso kabuhlungu emgogodleni wesibeletho-thoracic ezinganeni. Bonke abazalwa abazali eyodwa igazi maqondana. NgeNkathi Ephakathi, owakwakhe zomthetho wayesengaba ngisho nezihlobo. Ngakho-ke, ukwanda kwalesi anomaly akumangazi. Kamuva zokugula Lethiwa ososayensi. Klippel - Feil syndrome akusona isifo ngokugcwele. Kuyinto yesifo azalwa naso, okuvame ukuholela nezinye pathologies umgogodla.

Izici lesi sifo

Ngaphansi syndrome Klippel - Feil libhekisela iziyaluyalu azalwa naso yomgogodla wesibeletho, owakhiwa synostosis futhi ukunciphisa isibalo amathambo. It libhekene imvamisa eliphezulu ukubonakaliswa - Kwesinye isenzakalo ngasinye ukubeletha 120 000. Isici esivamile iningi isifo ubhekwa ukuncipha olukhulu endleleni ubude entanyeni. Ezimweni eziningi, ephelezelwa ezinye kwezinso of the system zemisipha kanye kwezinso azalwa naso we izitho zangaphakathi. Esikhathini sitholakele isifo akuzi Ochwepheshe eziningana :. Neurology, amathambo, izakhi zofuzo, njll ukwelashwa okulondoloza kuhlanganisa ukwelashwa ngokomzimba, Physiotherapy futhi massage. Ezimweni ezinzima kakhulu ezidinga ukuhlinzwa - ukuhlinzwa tservikalizatsii.

Ziyini izimbangela eziyinhloko zalokhu of kombungu

Klippel - Feil syndrome kubhekisela esenzakalweni esiyisimangaliso izifo kunqunywa zofuzo. izinguquko sokugembula emzimbeni kuqale nokuqala ukwenzeka emavikini ekucala ngemva kokubamba. Esinye sezizathu eziyinhloko odokotela syndrome baphawula kwemizwa yomgogodla kanye izingxenye, ikakhulukazi verhnesheykovom ezingeni. Kwakheka synostosis thoracic kanye amathambo wesibeletho, ukunciphisa isibalo sawo, emizimbeni nonunion futhi nemengamo asivumela ukunquma isithombe emitholampilo ye isifo. Iqembu ingozi kuhlanganisa izingane nge ufuzo okungekuhle, lapho kukhona:

1. Isici zofuzo kuma-chromosome. Ngo ingane egulayo kungukuphula ukwakheka kwamangqamuzana zokukhula kudingekile ekuthuthukiseni egcwele skeleton. Lokhu nakanjani kubonakala kakhulu ekuthuthukeni thoracic futhi wesibeletho amathambo neminyango.
2. Autosomal iphethini evelele ifa. Uma omunye umzali isifo, ematfuba kusho ukuthini ukuba nengane kanye kwezinso kuyinto 50-100%.
3. Autosomal ifa esikhubazayo. Kulokhu, ematfuba uma ingane kwezinso of 0-50%.

Ukuze ugweme okungekuhle ifa abazali kufanele uthintane isazi sezakhi zofuzo at the stage of ukuhlela ingane.

izimpawu ejwayelekile yalesi sifo

Lesi sifo libhekene triad zakudala zimpawu: ngokweqile entanyeni esifushane, ushintsho hairline, angahlali elilinganiselwe ekhanda. Lesi sifo kuthiwa ngokuvamile kuhlangene nezinye pathologies. Ngo-30% eziguli wembula ukugobeka komhlandla, torticollis ifomu eqinile okusezingeni eliphezulu ukuma izindwani - Sprengel isifo. Kwezinye izimo kwezinso waphawula yezingalo nemilenze engenhla, izinyawo ukusonteka, amazinyo, asymmetry ebusweni, hyperopia. Ngo-25% eziguli ukuthi nginesifo ubuthulu azalwa nako.

Klippel syndrome - Fail - Sprengel - akugcini nje uzwakalise isici yezimonyo. Kungaphinde kufake izimpawu zokungasebenzi kahle kwemizwa. Ushintsho E-CNS sibonakalise engqondo retardation, iphimbo, isithuthwane. Kusukela esemncane isiguli ukuba buthakathaka kwezicubu e emikhawulweni, kanye synkinesis. Ngezinye ubudala amadala ilinganiselwa isithombe emtholampilo is kulekelelwa izinguquko yesibili sokukhubazeka komgogodla.

ngihlolwa

Ukuqinisekisa isifo kungenziwa okusekelwe triad waphawula izimpawu, idatha behlolwa neluhlolo wezinsimbi. A indima ekhethekile uphethwe inikezwe ukutadisha umlando umndeni isiguli. Setha Klippel - Feil syndrome ne incazelo eningiliziwe ohambisana anomalies mhlawumbe ngenxa umsebenzi ehlelekile Ochwepheshe. Njengomthetho, ke neurologists zofuzo orthopedists, nangodokotela bababhekene nezifo zenhliziyo kanye pulmonologists.

Ukuze ukuhlola ubunjalo izinguquko babelwe esimweni vertebral. Ucwaningo lwenziwe ngo ezimbili kwelivi, okuyiqembu ulwazi kakhulu ngokuvamile kuba lateral. Ngenxa yokuma uncharacteristic ethunzi ugebhezi lwekhanda ahambisana isithombe ikholomu umgogodla, okwenza kube nzima ukuhlonza izinto. Ngaphezu kwalokho, kutuswa ukuthatha izithombe ngaleso esiphezulu flexion / isandiso entanyeni. Lokhu kuvumela ukucacisa nokuntengantenga kungenzeka ununited amathambo futhi uqinisekise syndrome Klippel - Feil. X-ray of nomgogodla wesibeletho-thoracic kuyabaveza:

• amathambo sikhubazekile;
• wehlise hlangana nenani labo;
• Fusion yemizimba vertebral;
• normal ukuma izindwani;
• ugobile yomgogodla.

Ngemva kokuqinisekisa sitholakele iziguli ultrasound yezitho zangaphakathi ngaphezu kwalokho esimisiwe ukuthola anomalies e isakhiwo sabo. Ephambi kwezinduna kwezinso zezinzwa kungadinga izitsha Doppler ultrasound, angiography, Bheka-MRI yomgogodla wesibeletho. Kuyinto ayimpoqo ukuze babonane nodokotela-sezakhi zofuzo. Ngokusho imiphumela yayo uchwepheshe uzokwazi ukucacisa imodi yefa, futhi ukuhlola ubungozi izizukulwane ezizayo.

Ifomu eziyisisekelo sifo

Klippel syndrome - Feil iyisifo ivelakancane. Ngokwezibalo, izimpawu ejwayelekile uxilongwe e nengane eyodwa emawakeni 120. I anomaly livela isiguli kwesinye izinhlobo ezintathu:

• Ukunciphisa inani izingxenye kabuhlungu emgogodleni wesibeletho, okuyinto kancane kancane ukuhlanganisa futhi zibukeke unciphise entanyeni. Leli fomu zokugula ukubangela izinkinga lapho ikhanda ezihambayo.
• Synostosis wesibeletho emgogodleni Fusion ngemuva nge ithambo occipital. Isiguli akakwazi ukuvula ikhanda lakhe ngaphandle ubuhlungu. amathambo wesibeletho nentamo ungomunye.
• Ifomu wesithathu ukubonakaliswa isifo zihlanganisa ezimbili zokuqala.

A okufana ethile yalesi sifo kungaba azimisele udokotela kuphela ngesisekelo imiphumela inhlolovo.

izimiso eziyisisekelo ukwelashwa

Ngeshwa, ezokwelapha zesimanje akukwazi ukunikeza izindlela ezanele ukuthi aluqede ngokuphelele lesi sifo ka Klippel - Feil. Ukwelashwa kuhilela ekuvimbeleni ukukhumuzeka sengozini yesibili. Ithathwe njengesisekelo izindlela olandelanayo, ezihlanganisa ukuvivinya umzimba nokwenza massage. imithi inikezwa umcimbi ukuthi inqubo isifo kuhambisana izinhlungu nokuphatheka kabi kokucindezelwa izimpande emsipheni. Njengomthetho, wasebenzisa analgesics, eqeda ukuvuvukala nezidakamizwa ezingekho steroidal. kokucindezelwa isikhathi eside izimpande emsipheni kudingeka uhlinzwe. Injongo eyinhloko ukusebenza - ukuthi uyoqeda ubuhlungu ngengxenye ukukhubazeka zangaphandle.

ukuvivinya umzimba nokwenza izivivinyo echibini

ukuphathwa okulondoloza yalesi sifo zihlanganisa sokuvivinya umzimba Yiqiniso, massage zokwelapha yomgogodla wesibeletho kanye okuthiwa entanyeni. Bonisa akhethiwe ngamunye, esekelwe esithombeni emitholampilo ye nesineke. Okokuqala, kufanele kwenziwe ngaphansi kokuqondisa onguchwepheshe, ungakwazi bese uqhubeka eminakweni yasekhaya. Iziguli kwathiwa unesifo "Sprengel syndrome - Fail - Klippel" pool umzimba ukusiza ukuba ugweme inkambo kuyinkimbinkimbi lesi sifo. Njengomthetho, seziguli ezisencane, odokotela batusa backstroke. umzimba Okuningi eziyinkimbinkimbi futhi ekhethiwe ngamunye. izincomo Universal mayelana ukubhukuda yokuzijwayeza alikho.

ukwelashwa kuhlinzwa

ubuhlungu ophikelelayo kubangelwa ezinzwa impande kokucindezelwa yilona olubonisa esiyinhloko ukuhlinzwa. Iziguli kwathiwa unesifo "syndrome Klippel - Feil" Izibikezelo siba sibi njengoba umuntu ekhula. Ngakho-ke, ukusebenza inikezwa ngokushesha ngemuva kokuba esesitholile isiqinisekiso zokugula. Ukuze kwandiswe ukuhamba entanyeni isetshenziselwa tservikalizatsiya Bonola. Ngesikhathi inqubo, udokotela kususa phezulu izimbambo ezine futhi periosteum ukuze kuncishiswe ingcindezi izitho zangaphakathi. Ukusebenza wenziwa ngezigaba eziningana. Ekuqaleni isuswe izimbambo ngakolunye uhlangothi kanti, ngemva nokuvulwa umzimba - kwenye.

Ukuvuselelwa isikhathi kudinga isikhathi esiningi nomzamo omkhulu. Kwaphela izinyanga eziningana, isiguli kufanele kube uphumule. Nokho, ukuyeka ukusebenza akudingekile. Okwamanje ke ukuphela kwendlela ephumelelayo ulungise ukukhubazeka zangaphandle, okuvela kuyo okuyinto kubangela sifo Klippel - Feil. Iyini imiphumela impilo, uma sishiye ekwelapheni, ezichazwe ngezansi.

Izinkinga kanye Izibikezelo isiguli

Ngemva kokuhlinzwa kanye nokuvuselelwa isikhathi isiguli Ungaphila impilo egcwele. Intamo kancane ngalesi ukwanda isikhathi ubude, okuyinto, kusukela iphuzu yobuhle buka, kubhekwa isici esihle. Uma isiguli engayinaki iseluleko udokotela lokululama, umzimba uqala "aphendule" yezinkinga. Ngokuyinhloko athuthukile zokugula yezitho zangaphakathi, kukhona indawo ngeminjunju eqinile entanyeni. Odlule ngenxa sokwephulwa kwe njalo izimpande nerve futhi kungaholela ukuqedela obezdvizhevaniyu nasemilenzeni. ingozi Visceral izinqubo engelapheki sokugembula, futhi angase abe imbangela yokufa ngaphambi kwesikhathi.

izinyathelo

Kungenzeka yini ukuthi luvimbele syndrome ka Klippel - Feil? Photo iziguli nale Ihlahlubo ophoqelelwe ukucabanga ngalo mbuzo. zokuvimbela Specific yalesi sifo alikho, ngoba omkhulu sitholwa njengefa. Emndenini lapho izimo ube anomalies efanayo aye alotshwa, kubalulekile ukwelulekwa zofuzo. essence yayo yangempela ahlolisise umbhangqwana ukulungiselela indima abazali, ukuhlola ingozi yesifo.

Kufinyeta

Klippel - Feil syndrome yisimo anomaly azalwa naso yomgogodla engenhla. It libhekene a triad ka izimpawu zangaphandle kanye nenombolo izici radiology. Lesi sifo has a Izibikezelo esibalulekile omuhle, kodwa nokuba belaphe kungenzeki ngokuphelele. Ukungenela ngesikhathi esifanele kuhlinzwa ukulungisa kuphela ivumela amaphutha yangaphandle atholakala. Uma wayeke waxoxa ngaphambili kuqinisekiswa nesihlobo esiseduze salowo kokutshelwa ngokukhubazeka kwengane, kuyancomeka ukuba ibhekane Ukuhlolwa umnyuziki kwezakhi zofuzo-ngaphambi lokukhulelwa ingane. Hlala uphilile!