Syndrome Crouzon: isethulo emitholampilo kanye nokwelashwa

Crouzon syndrome yisimo ezingavamile isifo esidluliselwa ngofuzo.

izici Jikelele

Ukugula libhekene sengozini ebusweni ezenzeka phakathi kwengane esiswini. Gill nemengamo e Umbungu - imfundo zesikhashana, kamuva lapho kwakhiwa izitho ezibalulekile, kuhlanganise emhlathini. Ukwephula nemengamo gill futhi kuholela sifo, lethiwa emva udokotela isiFulentshi, owokuqala owachaza lesi sifo, Octave Crouzon. Nguye owokuqala kuqashelwe ukuthi lesi sifo zofuzo, iziguli lakhe ibingamashumi umama nendodakazi. It disorder Maxillofacial elinesimo uhla izimpawu. Ngokwemvelo, ukuthi inkinga itholakala amathambo skull: ngasizathu simbe ingane, zingase elakhiwe ngendlela engafanele. Ngokwesibonelo, Crouzon Syndrome kungenziwa ebonakaliswa Fusion metopic, suture coronal noma sagittal, suture coronal ukusikwa ngaphambi kwesikhathi noma zonke ezivuzayo.

symptomatology

Crouzon syndrome libhekene izimpawu evelele. seziguli ezisencane ihlukile, okokuqala kunakho konke, liphansi kakhulu isethi izindlebe. Njengomthetho, lawa ngenxa zonke izinkinga ukuzwa ezivela esikhathini esizayo. Ezimweni ezimbi kakhulu, isifo aguqulwe nesifo i-Meniere sika. Phakathi izici isici futhi kufanele ngokuthi brachycephalic, okungukuthi, intamo esifushane futhi ububanzi, exophthalmos, ukuthi bulging amehlo (lokhu kungenxa enethiwekhi incane kakhulu iso), hypertelorism, okungukuthi ibanga kakhulu phakathi kwamehlo, ikhala elincane ukuthi ifana umlomo. izimpawu kaningi, kodwa akusho lokho ngempela abhekwa squint kanye nemihlathi ampofu. ukuthuthukiswa ezinganele we emihlathini kubangela kwesilevu ukuthi kuphuma ngokucijile. Zonke lezi zici elichaza Crouzon syndrome (izithombe iziguli ozibona sihloko). Ngenxa yezizathu ayikaziwa, iningi leziguli abe okhalweni uhlasela emincane futhi emahlombe.

ukuhlola

Njengomthetho, ngokushesha ngemuva ingane ukuthi wazalwa, ungakwazi ukuxilonga Crouzon syndrome. Izimbangela zesifo zazingaziwa. Ukuze uqinisekise khona lesi sifo badinga ukuchitha Luhlolo ezimbalwa:-X-ray, i-MRI, ukuhlola lo fundus, ukuhlolwa zofuzo ukuskena we- cortex cerebral.

imvamisa

Kuyaphawuleka ukuthi lesi sifo ivelakancane: ngokuvumelana izifundo lwezibalo 25,000 abantu abayimiqemane, kukhona isiguli esisodwa, kulapho cishe nomkhaya wakhe baye kubantu abaphethwe yilesi sifo.

ukwelashwa

Ngokuvamile, onalesi sifo kuncike kangakanani ukusonteka skull abathintekayo isimo izicubu ingqondo. Ngonyaka wokuqala wokuphila, ukusebenza lokwakha kungaba kwenziwe ku ugebhezi ingane. Njengoba ingane ikhula, kungase kudingeke imisebenzi emisha: phezu amathambo, umhlathi, izicubu ezithambile ebusweni. Kwezinye izimo, ngemuva kokuhlinzwa isiguli ukugqoka ngokukhethekile nesigqoko sokuzivikela. Inkinga eyinhloko itholakala lokuthi lesi sifo ngokuvamile ephelezelwa lengqondo retardation kanye nokuquleka.