Apert Syndrome - ukuphazamiseka eziyinkimbinkimbi zofuzo

Apert Syndrome - isifo ezingavamile, esizibonakalisa omunye izinsana 20,000. Lena ukuphazamiseka eziyinkimbinkimbi zofuzo libhekene ushintsho ukuma ugebhezi ngenxa sinostozirovaniya ngaphambi kwesikhathi (overgrowth) we sutures cranial, nezitho zomzimba kwezinso, okungukuthi syndactyly lesinesitfombe-sibuko izandla nezinyawo (coalescence okuphelele noma okuyingxenye engumakhelwane iminwe esandleni noma unyawo).

Ngokokuqala ngqá leli zokugula yabonisa udokotela French Apert ngo-1906, ubukele izinsana ayisishiyagalolunye esolwa kokuba isifo esidluliselwa ngofuzo. Apert wathola izici zalo isici, futhi ochazwe yilesi sifo.

Apert syndrome: izimbangela

Apert syndrome, izimbangela zezinkumbulo okuyizinto ayikaziwa, kungenziwa ngofuzo. Apert syndrome ngezinye izikhathi umphumela yokuthi ngesikhathi sokukhulelwa umama okhulelwe wahlupheka izifo: rubella, imfuluwenza meningitis, isifo sofuba , noma-X-ray ngemisebe.

Apert syndrome: ukubonakaliswa emitholampilo

In iziguli Apert syndrome, anomalies Yekhanda futhi eziningi nezinye izimpawu izimpawu:

• "Tower" Skull - ikhanda ukukhula ikakhulu ukuphakama;
• ebunzini okusezingeni eliphezulu nabadumile, izindlebe ezinkulu;
• isicaba ibhuloho acinene;
• amehlo ejulile setha futhi ububanzi-setha;
• ngenxa ukuthuthukiswa flat enethiwekhi pucheglazija;
• ngokuvamile emfantwini nolwanga - "ulwanga emfantwini";
• Fusion iminwe ezandleni nasezinyaweni, endaweni emahlombe, le izindololwane;
• ukuthuthukiswa ukuqina emalungeni ezinkulu;
• efanele ekuthuthukiseni ngokomzimba nangokwengqondo;
• kukobana iba yifitjhani khulu njalo waphawula, kungaba ukulahlekelwa ukuzwa, ingquza imperforate, anomalies e isakhiwo kwamanyikwe nezinso;
• izinguquko sokugembula kwamehlo nge cataract, strabismus, nystagmus, ptosis.

Ukuxilongwa Apert syndrome ekuqaleni wenziwa ukubukeka lesiguli. Ngokulandelayo, isiguli uphenywa ngosizo ukuhlolwa kwezakhi zofuzo.

Apert syndrome: isithombe sesiguli

Okusesihlokweni esithi izithombe ukhulume engcono mayelana ifomu sangaphandle isiguli.

Apert syndrome: Ukwelashwa

Apert syndrome oluthile lokwelapha sikhona, kodwa usizo kuhlinzwa kuyadingeka ukuze kuvinjelwe futhi ukulungiswa izici ezingokomzimba nezingokwengqondo retardation engqondo. Ingqikithi yalo msebenzi e ukuvala ezivuzayo yenhliziyo intracranial impumuzo ingcindezi iyadingeka futhi futhi zilekelele orthodontic kuhlinzwa.

imisebenzi Steel ngemuva kwalokhu enzelwe ukwakha iminwe emachosheni yasenhla nemithombo yasenzansi. Ngokuvamile kukhona ukuhlanganisa index, maphakathi kanye indandatho iminwe ngenxa izicubu zomzimba ezithambile ngisho nethambo. Odokotela abahlinzayo bakwazi ukuhlinza izindawo ku ukuhlukana kwazo iminwe kusuka komunye nomunye futhi ukwandisa ukusebenza kwabo.

Ukwelashwa Kwenziwa kuphela ngokusebenzisa indlela eqotho. Ithimba lodokotela kukhona ukuhlinzwa craniofacial, neurosurgery, ENT, ophthalmologist, udokotela ohlinzayo, udokotela wamazinyo, udokotela ohlinzayo, wamazinyo, abanikeza usizo ngendlela esifike ngesikhathi.

Imisebenzi ezenza ukuphila kube lula iziguli Apert syndrome, ubavumele ukuba embule amakhono ngokomzimba nangokwengqondo, ibe ukubukeka evamile, ukuthuthukisa izinga lempilo kanye ukuze waziwe emphakathini.