Apert lub syndrome - ib tug complex genetic teeb meem

Apert lub syndrome - ib tug tsawg tus kab mob, uas manifests nws tus kheej nyob rau hauv ib tug ntawm 20,000 cov me nyuam mos. Qhov no yog ib txoj kev tshuaj ntsuam genetic teeb meem uas yog yus muaj los ntawm ib tug kev hloov nyob rau hauv lub cev ntawm lub pob txha taub hau vim ntxov ntxov sinostozirovaniya (overgrowth) ntawm lub cranial sutures, thiab povtseg txawv txav, namely yam syndactyly ntawm ob txhais tes thiab ob txhais taw (tiav los yog ib nrab coalescence ntawm neighboring ntiv tes txhais tes los yog taw).

Rau cov thawj lub sij hawm no pathology tsom Fabkis tus kws kho mob Apert nyob rau hauv 1906, cov menyuam cov cuaj cov me nyuam mos xav tias muaj lub caj kab mob. Apert pom nws cov yam ntxwv nta, thiab piav txog qhov no syndrome.

Apert syndrome: ua

Apert syndrome, cov ua uas yog tseem tsis paub hais tias, yuav tsum pub. Apert syndrome yog tej zaum qhov tshwm sim ntawm qhov tseeb hais tias thaum lub sij hawm cev xeeb tub lub expectant niam raug kev txom nyem mob: rubella, mob khaub thuas, meningitis, tuberculosis , los yog X-ray irradiation.

Apert syndrome: kev soj ntsuam ces

Nyob rau hauv cov neeg mob uas Apert syndrome, anomalies ntawm lub pob txha taub hau thiab ib tug xov tooj ntawm lwm yam kev mob cov tsos mob:

• "Ntauwd" pob txha taub hau - lub taub hau kev loj hlob mas nyob rau hauv qhov siab;
• siab thiab tseem ceeb lub hauv pliaj, loj pob ntseg;
• flattened qhov ntswg choj;
• sib sib zog nqus-teeb thiab dav-teem ob lub qhov muag;
• vim txoj kev loj hlob ntawm tiaj nyob pucheglazija;
• feem ntau cleft palate - "cleft palate";
• fusion ntawm cov ntiv tes nyob rau hauv lub ob txhais tes thiab ob txhais taw, nyob rau hauv lub cheeb tsam ntawm lub xub pwg nyom, lub luj tshib;
• txoj kev loj hlob ntawm txhav nyob rau hauv loj pob qij txha;
• stunted lub cev thiab kev puas hlwb txoj kev loj hlob;
• dwarfism nquag pom, yuav yog ib lub poob ntawm lub rooj sib hais, qhov quav imperforate, anomalies nyob rau hauv tus qauv ntawm lub pancreas thiab ob lub raum;
• pathological kev hloov ntawm ob lub qhov muag nrog cataract, strabismus, nystagmus, ptosis.

Mob ntawm Apert syndrome chiv nqa tawm nyob rau hauv tus neeg mob lub cev. Tom ntej no, tus neeg mob yog nais maum kuaj nrog rau cov kev pab los ntawm kev tshuaj ntsuam genetic testing.

Apert syndrome: ib tug yees duab ntawm cov neeg mob

Nyob rau hauv tsab xov xwm duab yog qhov zoo tshaj plaws uas hais tau lus txog cov sab nraud daim ntawv ntawm tus neeg mob.

Apert syndrome: Kev Kho Mob

Apert syndrome txog kev kho tshwm sim, tab sis phais xav tau kev pab rau kev tiv thaiv thiab kev kho lub cev tsis xws luag thiab kev puas hlwb ruamqauj. Lub essence ntawm lub lag luam nyob rau hauv kaw coronary nqaws intracranial siab nyem yog tseem yuav tsum tau thiab sis phais kev cuam tshuam.

Phais haujlwm hereinafter yog npaj tsim cov ntiv tes rau ntawm lub Upper thiab qis extremities. Feem ntau yog ib tug sib tshuam uake ntawm qhov Performance index, nruab nrab thiab ntiv nplhaib ntiv tes vim nqaij mos thiab txawm pob txha. Cov neeg phais kev khiav hauj lwm nyob rau hauv qhov kev sib cais ntawm cov ntiv tes los ntawm txhua lwm yam thiab kom lawv functionality.

Kev kho mob yog nqa tawm tsuas yog los ntawm ib tug kev mus kom ze. Cov pab neeg ntawm cov kws kho mob yog craniofacial phais, neurosurgery, ENT, ophthalmologist, kws phais neeg, kws kho hniav, kws phais neeg, orthodontist, uas muab kev pab nyob rau hauv ib tug raws sijhawm.

Cov hauj lwm uas ua rau lub neej yooj yim rau cov neeg mob nrog Apert syndrome, tso cai rau lawv mus qhia lub cev thiab kev puas hlwb muaj peev xwm, tau ib tug ib txwm zoo li, los txhim kho qhov zoo ntawm lub neej thiab yuav tsum tau lees paub tias nyob rau hauv zej zog.