Franceschetti chirwere: chinokonzera, zviratidzo uye pakurapa chirwere

Franceschetti Syndrome ndiye autosomal kuzivikanwa chirwere dzinoratidzwa deformities-fascial chako nharaunda. Wakatanga kurondedzerwa muna 1900 maererano British ophthalmologist Treacher Collins.

zvokurwara mamirire

The chirwere kunoratidzwa pamberi murwere vakawanda chiso deformities. Sezvo zvokurwara ikabuda utero, pashure pokuberekwa inogona kuisa Treacher Collins chirwere, Franceschetti.

chirwere ichi ane pachake zviratidzo zvayo uye akapotsa chose mwana kubva muvanhu, zvichiita ake upenyu zvakaoma uye zvinorwadza. Zvokukura kusagadzikana pfupa rinenge uye Ossificação em chikonzero zvikuru chiso asymmetry, nokuda izvo auditory uye zvinooneka kuva chisingaperi STRUCTURAL zvokurwara.

Franceschetti chirwere - isingawanzowanikwi nemagene chirwere kuti kunoitika muna 1 muna 50,000 kuzvarwa. Nepo mushonga nepodvlasten kudzora nemagene kunotouraya, saka kana uine chero abnormalities mumhuri, unofanira kuva nechokwadi kunoona genetics, izvo zvichakubatsira kuti ngaaverenge ndingangokuvara kukura mwana asati aberekwa chero nemagene abnormalities.

The zvinokonzera chirwere

Development chirwere Rinobatanidzwa havachanyatsogoni fetus munguva vhiki 6-7. Kutyorwa vari vemunyika mu embryonic zvinhu wokutanga Gill chematenga.

Franceschetti chirwere angava kunosiyana madhigirii nezviratidzo, kubva kujeka kuti kuratidzwa zvakasimba pathologies yacho dehenya. The chirwere iri nhaka munzvimbo autosomal hune unhu uye ane yakakwirira chikamu chezvinhu phenotypic kuratidzwa pathologies dzakadaro muvana.

Nezviratidzo urwere

Externally ziso chirwere kunoratidzwa oblique slits, dzokunze makona ayo akadarikira neapo kuchengetwa coloboma remakore (pasina chikamu rezasi kana huyo fungiro), vachiberekwa tsanga, microphthalmia, paresis tsandanyama anokonzera ziso kufamba.

Mugore maxillofacial hurongwa vakachengeta hypoplasia pakati ari zygomatic pfupa, okumusoro shaya. Somugumisiro, chinokosha asymmetry chiso, dzimwe nguva aripo Varwere mumukaha mukanwa, zvichida kukuvadza mutauro, kuti pave mhingaidzo pamusoro oropharynx uye anokonzera zvirwere kufema.

Meno kazhinji underdeveloped, nevakawanda kuisa, pane dambudziko nokuruma. Hypoplasia repasi chikamu chiso anopa izvozvo shiri imwe mhando. Mune zvisingawanzoitiki kacho pane kuparadzwa guru emiti ropa, mwoyo, underdevelopment, zvemukati hydrocephalus.

Franceschetti chirwere chinogona kusiyaniswa dysplasia Goldenhaara. Nokuti ichi zvokurwara maitiro kuwedzera kwenhamba thoracal kana lumbar vertebrae, mutsipa synostosis, kusanzwa, pathologies ari nemamiriro auditory meatus, rurimi forked, mumukaha mukanwa.

Munyoro chirwere ane anenge asina STRUCTURAL kuchinja chiso nharaunda, neavhareji giravhiti - dzakanyorwa zviratidzo kunoratidzwa zvokusarudza. Zvakakomba chirwere kunoratidzwa pasina kusarudzwa chiso Mumagazini vana vakakwana. Maererano nenhamba, mwero chirwere kazhinji richiratidzwa, asi kazhinji kacho zvinoita kuti kubvisa kuremara kubudikidza epurasitiki kuvhiyiwa.

Franceschetti urwere: Treatment

Kurapa varwere kunoda interdisciplinary zvokurapa kusvika. The chikuru dambudziko ndiro kutyora yemweya, kumedza, chiratidzo uye kunzwa. Mune zvimwe zviitiko zvingava zvakakodzera tracheostomy - kushanda kwetsinga Anterior tracheal rusvingo.

Pashure gastrostomy (fistula vakaumba) vakatakura kunovaka muviri uye murwere kufema. Anogona kunatsiridza chitarisiko kubudikidza purasitiki kuvhiyiwa, asi zvinoitwa chikumbiro uye chete Paaizosvika rimwe zera.

Kuvhiya kunoda zvishoma nezvishoma akachinja chitarisiko uye kurapwa danho. Kukanganisika inogona kubviswa mumakore mashoma, kana kunyange emakore. Mune zvimwe zviitiko, hazvibviri kuti apedzise nokururamiswa chiso deformities, saka vanachiremba kuburikidza vavhiyiwa kunogona chete zvishoma kuderedza zviratidzo uye kuvandudza unhu murwere woupenyu.

Kuedza kudzorera kunzwa kuburikidza kuvhiyiwa (kune kwakarurama nemamiriro auditory ossicles) ari varwere vasina kunobatsirawo, saka zviri nani kuti chinangwa ichi kushandisa zvinoyamura kunzwa, vakasarudzwa yakavakirwa nomumwe zvokurwara uye munyika nemamiriro pakati nzeve.

Franceschetti chirwere: mapikicha varwere

The Photo inoratidza kuti vanhu vane chirwere Treacher Collins havasi sekwaserera upenyu pane utano vanhu. Vanodzidza kutambira pachako, idai chiso chako, vachida kubatsira chete vana vasina chido chokurarama uye polontsenno kutya kuenda panze nekuda kwaaiitwa nevamwe vana.

Kunyange vabereki zvachose utano atore mwana ane majini chirwere.

Pazuva mapikicha vasati uye pashure purasitiki kuvhiyiwa, musikana vakaona musiyano chinokosha. Naizvozvo, usaora mwoyo asati nguva kuisa maoko enyu. Unogona nguva dzose kuwana nzira kunatsiridza chitarisiko chavo.