Koj puas pom muaj kev hloov pauv ntawm koj tus menyuam lub ntsej muag lossis pob ntseg? Puas yog nws yog Goldenhar Syndrome?

Thaum peb saib ib tug menyuam mos, peb zoo siab thiab hlub heev, puas yog? Tab sis xav txog nws, qee zaum, txawm tias tsis tshua muaj, qee tus menyuam mos los rau hauv lub ntiaj teb no nrog qhov sib txawv me me uas muaj txij li thaum yug los. Yog li ntawd, feem ntau yog nyob rau hauv lub ntsej muag, pob ntseg, qhov muag, lossis tus txha nraub qaum, ib qho mob uas peb yuav tham txog hnub no hu ua Goldenhar Syndrome. Tsis txhob ntshai thaum koj hnov ​​lub npe no, peb yuav tham txog txhua yam hauv txoj kev yooj yim uas koj tuaj yeem nkag siab.

Goldenhar Syndrome yog dab tsi?

Hais yooj yim xwb, Goldenhar Syndrome yog ib yam mob uas tsis tshua muaj, muaj txij thaum yug los. "Congenital" txhais tau hais tias tus mob no muaj thaum yug los. Nws raug cais ua ib yam mob craniofacial. Qhov no txhais tau hais tias nws ua rau muaj qhov tsis zoo ntawm cov duab lossis kev loj hlob ntawm koj tus menyuam lub ntsej muag lossis lub taub hau. Tshwj xeeb, Goldenhar Syndrome tuaj yeem cuam tshuam rau koj tus menyuam lub pob txha caj qaum, pob ntseg, thiab qhov muag.

Feem ntau, cov neeg uas muaj Goldenhar Syndrome muaj cov pob txha thiab cov leeg nqaij tsis loj hlob zoo rau ib sab ntawm lub ntsej muag (tseem hu ua hemifacial microsomia). Qee zaum ob sab kuj raug cuam tshuam. Ib txhia menyuam kuj muaj daim di ncauj tawg lossis daim di ncauj tawg.

Nws tau muab lub npe hu ua Goldenhar los ua kev hwm rau tus kws tshawb fawb uas tau tshawb pom thawj qhov mob no hauv xyoo 1952, Maurice Goldenhar. Lwm lub npe kho mob rau nws yog "oculo-auriculo-vertebral dysplasia." Lub npe suab ntev me ntsis, puas yog? Cia peb piav qhia nws, puas yog?

• Oculo txhais tau tias muaj feem cuam tshuam rau lub qhov muag.
• Auriculo txhais tau tias muaj feem cuam tshuam rau pob ntseg.
• Vertebral hais txog tus txha nqaj qaum.
• Dysplasia yog kev loj hlob tsis zoo ntawm ib feem ntawm lub cev.

Tam sim no koj nkag siab lub ntsiab lus ntawm lub npe no, puas yog?

Qhov teeb meem no feem ntau tshwm sim li cas?

Goldenhar Syndrome yog ib qho mob tsis tshua muaj . Cov kws tshaj lij hais tias nws cuam tshuam txog li ib tus ntawm txhua 3,500 txog 25,000 tus menyuam mos. Nws kuj tau hais tias nws feem ntau tshwm sim rau cov tub hluas dua li cov ntxhais.

Cov ua rau muaj Goldenhar Syndrome yog dab tsi?

Lo lus nug uas ntau tus neeg muaj yog "Vim li cas qhov no thiaj tshwm sim?" Yog hais qhov tseeb, cov kws tshaj lij tseem tsis tau nkag siab txog qhov no .Tsis paub meej tias yog vim li cas thiaj muaj Goldenhar Syndrome no. Lawv ntseeg tias nws yog vim muaj kev hloov pauv ntawm cov chromosome, tab sis tsis yog txhua lub sijhawm paub meej tias yog vim li cas. Muaj tsawg kawg nkaus li 1% - 2% ntawm cov neeg mob, tus mob no tuaj yeem tau txais los ntawm ib tug lossis ob leeg niam txiv.

Muaj qee qhov kev tshawb fawb qhia tau hais tias qhov kev pheej hmoo ntawm tus menyuam uas muaj Goldenhar Syndrome yuav nce me ntsis yog tias leej niam muaj qee yam mob lossis siv qee yam tshuaj thaum cev xeeb tub. Piv txwv li:

• Ntshav qab zib thaum cev xeeb tub.
• Qee cov tshuaj siv rau pob txuv, tshwj xeeb tshaj yog cov uas muaj retinoic acid, xws li isotretinoin (Accutane®).

Yog li ntawd, yog tias koj cev xeeb tub, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li koj tus kws kho mob cov lus qhia kom meej.

Cov tsos mob ntawm qhov no yog dab tsi?

Cov tsos mob ntawm Goldenhar Syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Txawm li cas los xij, ib qho ntawm cov tsos mob feem ntau yog tias ib sab ntawm lub ntsej muag tsis loj hlob zoo . Qhov no kuj hu ua 'hemifacial microsomia', raws li peb tau hais ua ntej. Qhov no tuaj yeem ua rau lub puab tsaig, sab plhu, thiab qhov muag ntawm ib sab ntawm lub ntsej muag me dua thiab tsis loj hlob dua li sab tod. Piv txwv li, ib sab plhu yuav tiaj dua li lwm sab, lossis lub puab tsaig yuav me dua ntawm ib sab.

Lwm yam ntxwv pom tseeb yog:

• Qhov tsis zoo ntawm pob ntseg: Tej tus neeg yuav muaj ib lub pob ntseg me me txawv txawv (hu ua 'microtia'). Lwm tus yuav muaj ib lub pob ntseg ploj tag (hu ua 'anotia'). Qhov no ua rau tsis hnov ​​lus.
• Cuam tshuam rau ob sab ntawm lub ntsej muag: Kwv yees li ib feem peb ntawm cov menyuam yaus uas muaj Goldenhar Syndrome muaj kev loj hlob qeeb no ntawm ob sab ntawm lub ntsej muag.
• Teeb meem nrog lwm cov kabmob: Teeb meem kuj tuaj yeem tshwm sim nrog rau lub raum, lub plawv, lub ntsws, lossis cov pob txha ntawm tus txha nqaj qaum (vertebrae).
• Kev Tsis Txawj Ntse: Kwv yees li 15% ntawm cov neeg yuav muaj qee qib kev tsis txawj ntse. Qhov no txhais tau tias muaj teeb meem kawm, txo qis kev nkag siab, thiab lwm yam.

Ntxiv rau qhov no, lwm cov tsos mob yuav pom tau:

• Muaj ib daim di ncauj cleft los yog cleft palate.
• Cov teeb meem plawv yug los.
• Qee zaum yuav muaj cov pob me me (dermoid cysts) tshwm sim rau ntawm lub qhov muag.
• Kev hnov ​​​​lus tsis zoo.
• Kev sib sau ua ke ntawm cov dej hauv lub taub hau (Hydrocephalus).
• Kev pw tsaug zog tsis taus pa.
• Poob ntawm lub qhov muag lossis lwm cov nqaij hauv lub qhov muag (coloboma) thiab ua rau tsis pom kev.
• Kab mob Scoliosis.
• Teeb meem hais lus.
• Qhov muag hla ('Strabismus').

Nco ntsoov tias, tsis yog txhua tus neeg yuav muaj tag nrho cov tsos mob no. Tej zaum ib txhia neeg tsuas muaj ob peb tug xwb, thiab lawv qhov mob hnyav yuav txawv.

Yuav ua li cas koj thiaj paub tias koj muaj Goldenhar Syndrome?

Feem ntau, cov kws kho mob tuaj yeem kuaj mob Goldenhar Syndrome tom qab tus menyuam yug los raws li cov tsos mob sab nraud, xws li kev hloov pauv ntawm lub ntsej muag thiab pob ntseg.

Txawm li cas los xij, txhawm rau kom paub meej ntxiv thiab seb puas muaj lwm yam teeb meem sab hauv, tus kws kho mob yuav ua ob peb qhov kev kuaj ntxiv. Qee qhov ntawm cov no suav nrog:

• CT scans: Cov no tuaj yeem ntes tau cov kev hloov pauv hauv cov qauv hauv pob ntseg uas yuav ua rau hnov ​​​​​​lus tsis zoo.
• Kev kuaj lub plawv (echocardiogram) los yog electrocardiogram (EKG): Cov kev kuaj no tuaj yeem xyuas seb lub plawv ua haujlwm li cas. Raws li peb tau tham ua ntej, qee zaum kab mob plawv tuaj yeem tshwm sim.
• Kev kuaj qhov muag: Cov kev kuaj no yog ua los xyuas seb puas muaj qhov txawv txav hauv lub qhov muag.
• Ultrasound thiab X-ray: Cov no tuaj yeem kuaj xyuas seb puas muaj kev hloov pauv hauv lub taub hau, tus txha nqaj qaum, lub ntsws, lossis lub raum.
• Kev kuaj mob caj ces: Cov kev kuaj no pab tshem tawm lwm yam mob caj ces uas yuav ua rau muaj cov tsos mob zoo sib xws.
• Kev tshawb nrhiav kev pw tsaug zog: Cov no yog ua los xyuas seb puas muaj kev cuam tshuam kev pw tsaug zog apnea.

Qhov no puas tuaj yeem txheeb xyuas tau ua ntej tus menyuam yug los?

Qhov no tsis tshua muaj. Txawm li cas los xij, qee zaum, thaum lub sijhawm kuaj ultrasound ua ntej yug menyuam, cov kws kho mob yuav pom cov kev hloov pauv hauv tus menyuam lub puab tsaig, pob ntseg, lossis qhov ncauj. Yog tias qhov no tshwm sim, lawv yuav ua tib zoo saib xyuas nws ntau dua.

Cov kev kho mob rau qhov no yog dab tsi?

Kev kho mob rau Goldenhar Syndrome sib txawv nyob ntawm cov tsos mob . Tsis yog txhua tus neeg tau txais kev kho mob tib yam. Qee tus menyuam yaus yuav tsis xav tau kev kho mob tshwj xeeb yog tias lawv cov tsos mob tsis hnyav heev. Txawm li cas los xij, kev kho mob raug npaj nrog kev pab los ntawm ntau tus kws tshwj xeeb, raws li qhov xav tau.

Nov yog qee txoj kev kho mob:

• Kev Pab Pub Mis: Tej zaum yuav muaj ib txhia menyuam mos uas muaj teeb meem haus mis. Yog li ntawd, tej zaum yuav xav tau lub raj mis tshwj xeeb lossis kev pub mis rau hauv qhov ntswg (NG).
• Txhim kho qhov muag pom kev: Koj tuaj yeem siv tsom iav lossis phais kom txhim kho koj qhov muag pom kev.
• Cov khoom siv pab hnov ​​lus: Kev hnov ​​lus tuaj yeem txhim kho tau los ntawm kev siv cov khoom siv pab hnov ​​lus lossis cov khoom cog rau pob txha.
• Kev kho mob hais lus:Qhov no tseem ceeb heev rau kev txhim kho kev txawj lus thiab kev sib txuas lus.
• Kev Phais Mob: Kev phais mob yuav ua tau los kho kab mob plawv, daim di ncauj tawg lossis lub qhov ncauj qhib, kev pw tsaug zog tsis taus pa, pob ntseg me (microtia), lossis cov pob txha caj qaum tsis zoo.

Tag nrho cov no yog ua los txhim kho tus menyuam lub neej kom zoo li ntau tau. Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia uas tus kws kho mob muab.

Puas kho tau qhov kev hloov pauv ntawm lub ntsej muag?

Yog lawm, qhov no yog ib qho teeb meem rau ntau tus niam txiv. Kev phais kom zoo nkauj tuaj yeem ua tau los ua kom cov yam ntxwv ntawm lub ntsej muag sib npaug. Ntau tus menyuam mos uas muaj Goldenhar Syndrome tau phais kom hloov pauv qhov zoo li ntawm lawv lub puab tsaig, pob txha ntawm sab plhu, pob ntseg, lossis hauv pliaj. Qhov no feem ntau ua thaum tus menyuam loj dua me ntsis, thaum muaj hnub nyoog tsim nyog.

Puas tiv thaiv tau Goldenhar Syndrome?

Zoo li peb tau tham ua ntej lawm, tsis muaj ib txoj kev tseeb uas yuav tiv thaiv tau qhov mob no vim tias qhov ua rau mob tseem tsis tau paub meej . Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum ua raws li tag nrho koj tus kws kho mob cov lus qhia thaum cev xeeb tub. Tshwj xeeb, tsis txhob siv cov tshuaj uas muaj retinoic acid (xws li qee cov tshuaj kho pob txuv) yam tsis tau koj tus kws kho mob cov lus qhia. Nws tseem ceeb heev uas yuav tsum noj zaub mov zoo.

Yog tias ib tug neeg hauv koj tsev neeg muaj Goldenhar Syndrome, nws yog ib lub tswv yim zoo kom tau txais kev cob qhia txog noob caj noob ces. Tom qab ntawd, yog tias koj tab tom npaj yuav muaj menyuam, koj tuaj yeem nkag siab txog qhov kev pheej hmoo ntawm tus menyuam ntawd yuav muaj tus mob no.

Lub neej yuav zoo li cas nrog qhov xwm txheej no?

Qhov no yuav zoo li ntshai me ntsis rau koj. Txawm li cas los xij, thaum lub neej yav tom ntej ntawm cov neeg uas muaj Goldenhar Syndrome txawv, feem ntau ntawm cov neeg muaj qhov tshwm sim zoo . Yog tias kho kom zoo, cov menyuam yaus uas muaj tus mob no feem ntau tuaj yeem ua neej nyob ib txwm. Lawv muaj peev xwm kawm, ua si, thiab koom nrog hauv zej zog.

Koj xav nug tus kws kho mob li cas?

Thaum koj pom tias koj tus menyuam muaj tus mob no, tej zaum koj yuav muaj ntau lo lus nug. Lub sijhawm ntawd, tsis txhob ntshai nug koj tus kws kho mob cov lus no:

• "Kws kho mob/Miss, cov tsos mob tseem ceeb ntawm Goldenhar Syndrome yog dab tsi?"
• Kuv yuav tsum tau kuaj dab tsi kom paub tseeb tias kuv tus menyuam muaj qhov no?
• "Muaj kev kho mob dab tsi rau qhov no? Yuav kho li cas thiaj zoo tshaj plaws rau kuv tus menyuam?"
• Muaj qhov chaw twg uas koj ntseeg tau los kawm ntxiv txog qhov teeb meem no?
• Puas muaj cov koom haum lossis cov pab pawg niam txiv uas pab cov menyuam yaus thiab tsev neeg nrog rau qhov xwm txheej zoo li no?

Kev nug cov lus nug no yuav pab koj nkag siab zoo dua txog qhov xwm txheej thiab muab qhov zoo tshaj plaws rau koj tus menyuam.

Puas yog Goldenhar Syndrome yog ib qho kev tsis taus?

Yog, qee zaum qhov noKev tsis taus yuav suav tias yog kev tsis taus. Piv txwv li, yog tias muaj kev tsis hnov ​​lus lossis pom kev tsis meej, nws tuaj yeem yog kev tsis taus. Ib yam li ntawd, yog tias muaj kev tsis taus ntawm kev txawj ntse, tus neeg ntawd yuav xav tau kev txhawb nqa ntxiv kom ua haujlwm txhua hnub thiab kawm. Yog li ntawd, nws yog peb lub luag haujlwm ua lub zej zog los muab cov chaw thiab kev txhawb nqa tsim nyog rau lawv.

Lwm yam mob twg muaj cov tsos mob zoo sib xws?

Muaj ntau lwm yam mob uas muaj cov tsos mob zoo ib yam li Goldenhar Syndrome. Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum tau kuaj mob kom raug. Ib txhia ntawm cov mob no yog:

• Kab mob Branchio-oto-renal `(Branchioootorenal (BOR) syndrome)`
• Lub Koom Haum CHARGE
• Cov tsos mob Townes-Brocks
• Treacher Collins syndrome
• Lub Koom Haum VACTERL

Txawm hais tias qhov no yuav zoo li nyuaj me ntsis los, cov kws kho mob xav txog txhua yam no thaum kuaj mob.

Peb yuav tsum nco ntsoov txog tej yam uas peb tau tham txog!

Goldenhar Syndrome yog ib yam mob tsis tshua muaj uas muaj thaum yug los. Nws feem ntau cuam tshuam rau lub ntsej muag, lub taub hau, thiab qee zaum cov kabmob sab hauv ntawm tus menyuam. Cov kws kho mob tuaj yeem kho qee qhov kev puas tsuaj ntawm lub ntsej muag lossis tus txha caj qaum thaum nws tseem yog menyuam yaus los ntawm kev phais.

Qhov tseem ceeb yog tias qee tus menyuam yaus yuav tsis xav tau kev kho mob tshwj xeeb yog tias lawv cov tsos mob tsis hnyav heev. Thiab, feem ntau, cov neeg uas muaj Goldenhar Syndrome nyob zoo siab, muaj lub neej zoo siab nrog kev kho mob thiab kev txhawb nqa tsim nyog.

Yog koj xav tias koj tus menyuam muaj cov tsos mob no, tsis txhob ntshai, tab sis mus ntsib kws kho mob tam sim ntawd kom tau txais lus qhia. Kev kuaj mob thaum ntxov thiab kev kho mob kom zoo tuaj yeem muab rau koj tus menyuam lub neej yav tom ntej zoo dua.

Goldenhar syndrome, mob uas muaj txij thaum yug los, yug los tsis zoo, craniofacial, hemifacial microsomia, oculo-auriculo-vertebral dysplasia, kev noj qab haus huv ntawm menyuam yaus