Crouzon syndrome: kev soj ntsuam kev nthuav qhia thiab kev kho mob

Crouzon syndrome yog ib tug tsis tshua caj kab mob.

General yam ntxwv

Tus mob yog yus muaj los ntawm lub ntsej muag deformities uas tshwm sim thaum lub sij hawm me nyuam hauv plab kev loj hlob. Gill arches nyob rau hauv tib neeg embryo - ib tug hloov kev kawm ntawv, ntawm uas tom qab tsim ib qho tseem ceeb kabmob, nrog rau lub puab tsaig. Kev ua txhaum ntawm lub ntses chaw dim pa arches thiab ua rau tus kab mob, uas tau txais nws lub npe tom qab lub Fabkis tus kws kho mob, thawj piav nws, octave Crouzon. Nws yog nws leej twg ua ntej sau tseg tias tus kab mob yog caj, nws cov neeg mob yog ib tug niam thiab tus ntxhais. Nws Maxillofacial teeb meem yus muaj los ntawm ib tug ntau yam ntawm cov tsos mob. Lawm, hais tias cov teeb meem lus dag nyob rau hauv lub pob txha taub hau pob txha: rau ib co yog vim li cas tus me nyuam, tej zaum lawv yuav tsum generated incorrectly. Piv txwv li, Crouzon Syndrome yuav manifested nyob rau hauv fusion metopic, coronal los yog sagittal suture, coronal suture ntxov ntxov contraction los yog tag nrho nqaws.

symptomatology

Crouzon syndrome yog yus muaj los ntawm pronounced cov tsos mob. Hluas neeg mob no sib txawv, ua ntej ntawm tag nrho cov, muaj tsawg tsawg heev set pob ntseg. Raws li ib tug txoj cai, cov no yog cov tag nrho cov rooj sib hais cov teeb meem uas tshwm sim taus nyob rau hauv lub neej yav tom ntej. Nyob rau hauv loj heev zaum, tus kab mob no yog hloov nyob rau hauv Meniere tus kab mob. Ntawm cov yam ntxwv nta yuav tsum tau hu ua brachycephalic, uas yog, luv luv thiab dav caj dab, exophthalmos, uas yog su ob lub qhov muag (qhov no yog vim ib yam nkaus thiab me me qhov muag nyob), hypertelorism, uas yog heev npaum li cas deb ntawm lub qhov muag, ib tug me me qhov ntswg uas zoo xws li ib tug kaus ncauj. Nquag, tiam sis tsis tas cov tsos mob no yog ib tug squint thiab underdeveloped puab tsaig. Tsis txaus txoj kev loj hlob ntawm lub puab tsaig ua lub puab tsaig uas protrudes sharply. Tag nrho cov nta tuab Crouzon syndrome (duab ntawm cov neeg mob uas koj pom nyob rau hauv tsab xov xwm). Rau tseem tsis paub hais tias yog vim li cas, feem ntau ntawm cov neeg mob muaj ib tug disproportionately nqaim duav thiab lub xub pwg nyom.

diagnostics

Raws li ib tug txoj cai, sai li sai tau tom qab tus me nyuam yog yug los, koj muaj peev xwm txhom tau Crouzon syndrome. Cov ua ntawm tus kab mob yog tsis paub. Nyob rau hauv thiaj li yuav paub meej tias hauv lub xub ntiag ntawm tus kab mob yuav tsum siv ib ob peb xeem: X-ray, MRI, kev soj ntsuam ntawm lub fundus, tshuaj ntsuam genetic testing thiab tshuaj ntaus ntawm lub cerebral cortex.

zaus

Nws yog ib nqi sau cia hais tias tus kab mob no yog tsis tshua muaj heev: raws li cov statistical cov kev tshawb fawb nyob rau hauv 25,000 noj qab nyob zoo neeg, yog ib tug neeg mob, qhov ntau dua nws tsev neeg tau tus neeg txom nyem los ntawm tus kab mob no.

kev kho mob

Nyob rau hauv dav dav, lub raug nyob rau ntau npaum li cas cov pob txha taub hau deformation cuam tshuam rau lub xeev ntawm lub paj hlwb cov ntaub so ntswg. Nyob rau hauv thawj xyoo ntawm lub neej, reconstructing lag luam yuav nqa tawm nyob rau hauv lub pob txha taub hau ntawm ib tug me nyuam. Raws li cov me nyuam loj hlob, tej zaum koj yuav xav tau tshiab ua hauj lwm: nyob rau cov pob txha, lub puab tsaig, nqaij mos mos ntawm lub ntsej muag. Nyob rau hauv tej rooj plaub, tom qab lub lag luam tus neeg mob muaj hnav ib tshwj xeeb ua kaus mom hlau. Lub ntsiab teeb meem lus dag nyob rau hauv lub fact tias tus kab mob no feem ntau yog nrog psychomotor ruamqauj thiab qaug dab peg.