Franceschetti syndrome: akpata, mgbaàmà na ọgwụgwọ nke ọrịa

Franceschetti ọrịa bụ ihe autosomal kasị ọrịa ji deformities-fascial ọdịdị ihu ebe. Ya na nke mbụ kọwara na 1900 site na British ophthalmologist Treacher Collins.

daa ọrịa e ji mara

The ọrịa e ji ọnụnọ nke ọrịa multiple ọdịdị ihu deformities. Ebe ọ bụ na daa ọrịa amalite na utero, mgbe amuchara nwa nwere ike ịtọ Treacher Collins syndrome, Franceschetti.

Nke a na ọrịa nwere ya mgbaàmà na fọrọ nke nta kpamkpam ebipụ nwa si ọha mmadụ, na-eme ka ndụ ya ike ma na-egbu mgbu. Otito ọrịa nke ọkpụkpụ anụ ahụ na osifikeshịọn-eme ka oké ihu asymmetry, n'ihi nke auditory na anya na-immutable bughi daa ọrịa.

Franceschetti syndrome - a obere mkpụrụ ndụ ihe nketa-aghasa na-aputa ihe n'akparamagwa 1 na 50,000 ịmụ nwa. Mgbe na nkà mmụta ọgwụ nepodvlasten akara nke mkpụrụ ndụ ihe nketa mmụba, ọ bụrụ na ị nwere ihe ọ bụla abnormalities na ezinụlọ, ị ga-ijide n'aka ileta mkpụrụ ndụ ihe nketa, nke ga-enyere gbakọọ puru nke mmepe nke nwa e bu n'afọ nke ọ bụla mkpụrụ ndụ ihe nketa abnormalities.

Na-akpata ọrịa

Development nke ọrịa na-ejikọta ya na mkpọchị nwa ebu n'afọ na mmepe na oge nke 6-7 izu. Imebi na-metụtara nanị akụkụ ụfọdụ na-amalite amalite na ihe nke mbụ mesho njiko.

Franceschetti syndrome nwere mgbanwe degrees nke mgbaàmà, si aghọta na ike owụt pathologies nke okpokoro isi. The syndrome na-ketara na autosomal kasị àgwà na nwere nnukwu pasent nke phenotypic ngosipụta nke ndị dị otú ahụ pathologies na ụmụ.

Ịrịba ama nke syndrome

Hibere anya syndrome ka egosiri site oblique slits, ná mpụta nkuku nke na-omitted mgbe ụfọdụ hụrụ coloboma narị afọ (na-abụghị akụkụ nke ala ma ọ bụ elu nkuchianaya), congenital cataracts, microphthalmia, paresis uru maka anya ije.

Na maxillofacial usoro hụrụ hypoplasia nke ndị zygomatic ọkpụkpụ, elu na nke ala agha. N'ihi ya, a ịrịba asymmetry nke ihu, mgbe ụfọdụ, ugbu a na ọrịa mkpịwa okpo ọnụ, ikekwe pushing asụsụ, inye onyinye mgbochi nke oropharynx ma na-eme akụkụ okuku ume na ọrịa.

Ezé na-abụkarị ndị underdeveloped, n'ọtụtụ ebe, ịtọ, na e nwere nsogbu na a aru. Hypoplasia nke ala akụkụ nke ihu na-enye ya a ụdị nnụnụ. Na obere okwu, e nwere mbibi nke nnukwu ọbara orù, obi, underdevelopment, esịtidem hydrocephalus.

Franceschetti syndrome nwere ike ọdịiche dị n'etiti ya dysplasia Goldenhaara. N'ihi na nke a daa ọrịa e ji mara na-abawanye na ọnụ ọgụgụ nke thoracic ma ọ bụ lumbar vertebrae, n'olu synostosis, ikpe ọnwụ, pathologies nke ihe owuwu nke auditory meatus, ire gbara mkpị, mkpịwa okpo ọnụ.

Nwayọọ syndrome nwere fọrọ nke nta dịghị bughi mgbanwe ihu mpaghara, na nkezi mpo - depụtara mgbaàmà na-kwupụtara bibiri. Siri ike syndrome e ji zuru enweghị nke ahọrọ ihu na ụmụ. Dị ka ọnụ ọgụgụ, na-agafeghị oke ọrịa mgbe gosipụtara, ma ọtụtụ mgbe na o kwere omume iji kpochapụ ntụpọ site plastic ịwa ahụ.

Franceschetti syndrome: Ọgwụgwọ

Na-emeso ndị ọrịa na-achọ interdisciplinary ọgwụ obibia. Isi nsogbu bụ ndị mebiri nke airway, ilo ọhụụ na-anụ. N'ọnọdụ ụfọdụ, ọ pụrụ ịdị mkpa tracheostomy - ọrụ dissection ihu tracheal mgbidi.

Mgbe gastrostomy (fistula kpụrụ) rụrụ oriri na-edozi na-enwe ndidi na-eku ume. Nwere ike melite ọdịdị site plastic ịwa ahụ, ma ọ na-eme na-arịọ arịrịọ na naanị n'elu-eru a afọ ndụ ụfọdụ.

Surgery na-achọ a jiri nwayọọ nwayọọ na-agbanwe ọdịdị na ọgwụgwọ nzọụkwụ. Ntụpọ ike iwepụ na a afọ ole na ole, ma ọ bụ ọbụna ọtụtụ iri afọ. Mgbe ụfọdụ, ọ gaghị ekwe omume iji wuchaa mgbazi nke Ihu, otú dọkịta site ịwa ahụ nwere ike na-ubé belata mgbaàmà ma melite ọrịa àgwà nke ndụ.

Mgbalị iji weghachi ikpe site ịwa ahụ (na ziri ezi Ọdịdị nke ahụ auditory ossicles) na ọrịa na-inwe mmetụta dị mma, n'ihi ya, ọ dị mma n'ihi nzube a iji na-anụ ihe, họrọ dabeere onye daa ọrịa na esịtidem Ọdịdị nke etiti ntị.

Franceschetti syndrome: photos nke ọrịa

The foto na-egosi na ndị mmadụ na na syndrome Treacher Collins adịghị obere nọ n'ọrụ ná ndụ karịa ike ndị mmadụ n'otu n'otu. Ha na-amụta na-anabata gị, n'anya ihu gị, ọkụ n'obi inyere ke otu ụmụ na-enweghị mmasị ịdị ndụ na polontsenno egwu na-aga ná mpụga n'ihi ịkwa emo nke ụmụaka ndị ọzọ.

Ọbụna a nnọọ ahụ nne na nna nwere ike inweta a nwa na a mkpụrụ ndụ ihe nketa ọrịa.

Na photos tupu mgbe plastic ịwa ahụ, nwa agbọghọ hụrụ a ịrịba dị iche. Ya mere, enwela obi nkoropụ tupu oge na-etinye aka gị. Ị nwere ike mgbe niile chọta a ụzọ ka mma ha anya.