I naute hmai emaw, beng emaw-ah danglamna i hmu em? Goldenhar Syndrome a ni thei ang em?

Nausen piang thar kan en hian kan hlim em em a, kan hmangaih em em bawk a ni lawm ni? Mahse han ngaihtuah teh, a chang chuan, a tlem hle nachungin, naute thenkhat chu he khawvelah hian an pian tirh atanga lo awm thin danglamna tenau tak tak nen an lo kal thin. Chutiang chuan, a bik takin hmai, beng, mit, emaw ruhroah emaw, tunlaia kan sawi tur dinhmun pakhat chu Goldenhar Syndrome an ti a ni. He hming i hriat hian hlau suh, i hriatthiam theih tur awlsam takin engkim kan sawi dawn a ni.

Goldenhar Syndrome hi eng nge ni?

A awlsam zawngin, Goldenhar Syndrome hi a awm lo va, pianpui atanga lo chhuak a ni . "Congenital" tih hian pian tirh lamah a awm tihna a ni. Craniofacial condition anga classified a ni. Chumi awmzia chu i naute hmai emaw lu emaw pianzia emaw, a than danah emaw thil danglam tak a thlen tihna a ni. A bik takin Goldenhar Syndrome hian i naute ruhro, beng leh mit a nghawng thei a ni.

Vawi tam tak chu Goldenhar Syndrome vei te hian an hmai sir khatah ruh leh thau (hemifacial microsomia an ti bawk) a lo thang tha lo hle. A chang chuan a sir lehlamah a nghawng thei bawk. Naupang thenkhat chuan hmui cleft emaw, cleft palate emaw an nei bawk.

Kum 1952-a he natna hmuchhuak hmasa bertu zirchiangtu Maurice Goldenhar chawimawina atan Goldenhar tia vuah a ni. Damdawi lama a hming dang chu "oculo-auriculo-vertebral dysplasia" tih a ni. A hming hi a sei deuhin a ri a ni lawm ni? I ti chhe vek ang u, kan ti ang em?

• Oculo tih awmzia chu mit nena inzawm tihna a ni.
• Auriculo tih awmzia chu beng nena inzawm tihna a ni.
• Vertebral tih hian ruhro a kawk a ni.
• Dysplasia chu taksa peng pakhat a lo thanglian dan pangngai lo a ni.

Tunah chuan he hming awmzia hi i hrethiam ta a ni lawm ni?

Hetiang dinhmun hi engtiang chiahin nge a awm?

Goldenhar Syndrome hi a takah chuan a awm lo hle a ni . Mithiamte chuan nau piang thar 3,500 atanga 25,000 zinga pakhat vel a vei niin an sawi. Hmeichhia aiin mipaah ​​a tam deuh niin an sawi bawk.

Goldenhar Syndrome hi engte nge ni?

Mi tam takin zawhna an neih chu "Engvangin nge hetiang hi a lo awm?" Dik tak chuan mithiamte chuan an la chhui chhuak lo .Goldenhar Syndrome hi a chhan dik tak hriat a la ni lo. Chromosome pakhat inthlak danglam vang nia rin a ni a, a chhan erawh a chiang ngai lo. Za zela tlemte chauh, 1% - 2% velah chuan nu leh pa pakhat emaw, nu leh pa pahnih emaw atanga rochun theih a ni.

Research thenkhatah chuan naute hian natna engemaw zat a neih emaw, naupai laiin damdawi thenkhat a hman emaw chuan naute chu Goldenhar Syndrome vei theihna a sang deuh thei tih an hmuchhuak. Entir nan:

• Naupai laia zunthlum vei.
• Acne damdawi thenkhat, a bik takin retinoic acid awmna, isotretinoin (Accutane®) te.

Chuvang chuan naupai i nih chuan i Doctor thupek dik taka zawm a pawimawh hle.

Hei hi eng symptoms nge ni?

Goldenhar Syndrome natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Mahse, a lan chhuah dan tlangpui pakhat chu hmai sir khat a lo thang tha lo tih hi a ni . Hei hi `hemifacial microsomia` an ti bawk a, a hmaa kan sawi tawh ang khan. Hei hian hmai sir khata hmui, hmui leh mit te chu a sir lehlamah aiin a te zawkin a lo thanglian lo thei a ni. Entîr nân, a hmui pakhat chu a dang aiin a hrual zâwk thei a, a nih loh leh a hmui chu a sir khatah a te zâwk thei bawk.

Thil hmuh theih dangte chu:

• Ear abnormalities: Mi thenkhat chuan beng pakhat, a pangngai lo taka te (`microtia` an tih) an nei thei. Mi dangte chuan beng pakhat a bo vek (`anotia` an tih) an nei thei bawk. Hei hian hriatna a tichhe thei a ni.
• Hmai sir lehlamah a nghawng: Goldenhar Syndrome vei naupang hmun thuma ṭhena hmun khat vel chuan hmai sir lehlamah he hmasawnna tlahniam hi an tawk a ni.
• Organ dang lama harsatna: Kal, thinlung, lung, emaw ruh (vertebrae) ruh emaw-ah pawh harsatna a awm thei bawk.
• Intellectual disability: Mi 15% vel chuan intellectual disability level engemaw chen an nei thei. Hei hian zirlai harsatna, hriatthiamna tlahniam, etc. a kawk a ni.

Hei bakah hian symptom dang pawh hmuh tur a awm thei:

• Hmai cleft emaw, cleft palate emaw neih.
• Thinlung chhiatna (congenital heart defects) a awm.
• A châng chuan mit-ah hian lump te te (dermoid cysts) a lo awm thei bawk.
• Hriatna hloh.
• Luruh chhunga tui awmkhawm (Hydrocephalus).
• Mut theih lohna (obstructive sleep apnea) a awm.
• Mit chhunga mitmeng emaw tissue dang emaw hloh (coloboma) leh chuta tang chuan mit hmuhna a hloh.
• Scoliosis natna (Scoliosis) a ni.
• Thusawi harsatna.
• Mitmeng inzawm (`Strabismus`).

Mi zawng zawng hian heng symptom zawng zawng hi an nei vek dawn lo tih hre reng ang che. Mi thenkhat chuan tlemte chauh an nei thei a, an chakna pawh a inang lo thei bawk.

Engtin nge Goldenhar Syndrome i vei tih i hriat theih ang?

Vawi tam tak chu doctor-te chuan naute pian hnuah Goldenhar Syndrome hi pawn lam atanga a lan dan, hmai leh beng inthlak danglamna te a zirin an hmuchhuak thei a ni.

Mahse, finfiah belh tur leh chhungril lama harsatna dang a awm leh awm loh hriat nan doctor chuan test tlemte a ti leh thei a ni. Chung zinga ṭhenkhat chu:

• CT scan: Hengte hian beng chhunga thil awmte a inthlak danglam a, chu chuan hriatna a tichhe thei a ni.
• Echocardiogram (echo test) emaw electrocardiogram (EKG): Heng test te hian thinlung hnathawh dan a enfiah thei a ni. A hmaa kan sawi tawh ang khan lung natna hi a chang chuan a awm thei a.
• Mit enfiahna: Heng test te hi mit chhunga thil dik lo awm leh awm loh enfiah nan an ti thin.
• Ultrasound leh X-ray: Hengte hian luruh, ruhro, lung leh kal (kidney)-a inthlak danglamna a awm leh awm loh a enfiah thei a ni.
• Genetic testing: Heng test te hian genetic condition dang, symptom ang chi awm thei te chu a paih chhuak thei a ni.
• Sleep study: Hengte hi obstructive sleep apnea awm leh awm loh enfiah nan an ti thin.

Hei hi naute pian hmain hriat theih a ni em?

Hei hi a tlem hle. Mahse, a châng chuan nausen piang hmaa ultrasound scan an neih lai hian doctor-te chuan nausen hmui, beng leh hmuiah danglamna an hmu thei a ni. Hetiang a lo thlen chuan an ngaihven zawk mai thei.

Hei hi eng enkawlna nge ni?

Goldenhar Syndrome enkawl dan hi a natna lan chhuah dan azirin a inang lo . Mi zawng zawng hi a inang vek lo. Naupang thenkhat chu an natna lan chhuah dan a na lo hle a nih chuan enkawlna bik an mamawh lo mai thei. Amaherawhchu, specialist hrang hrang puihnain, a tul dan azirin enkawl tura ruahman a ni.

Enkawl dan tur thenkhat chu hetiang hi a ni:

• Chaw pek \anpuina: Nausen \henkhat chuan hnute pek harsa an ti thei. Chutiang hunah chuan special bottle emaw nasogastric (NG) feeding emaw pek a ngai mai thei.
• Mit tihchangtlun: I mit hmuh that nan glasses i hmang thei a, surgery i nei thei bawk.
• Hearing aids: Hearing aids emaw bone-anchored auditory implants emaw hmanga hriatna tihchangtlun theih a ni.
• Thusawi hmanga enkawlna:Hei hi tawng leh inbiakpawhna thiamna tihhmasawn nan a pawimawh hle.
• Surgery: Lung natna, hmui emaw hmui emaw cleft, sleep apnea, beng te (microtia), emaw spinal deformities siamthat nan surgery tih theih a ni.

Heng zawng zawng hi naupang nunphung tihchangtlun nan a theih ang anga tih a ni. Chuvang chuan Doctor-in thurawn a pek ang hi zawm a pawimawh hle a ni.

Hmêl inthlak danglamna hi siam ṭhat theih a ni em?

Ni e, hei hi nu leh pa tam tak tan chuan harsatna a ni. Cosmetic surgery pawh hi hmai lam hawi zawnga symmetrical zawka siam theih a ni. Goldenhar Syndrome vei naute tam tak chu an hmui, an hmui, an beng emaw, an hmai emaw hmel thlak danglam turin operation an nei thin. Hei hi naupang chu a lo upa deuh tawh a, kum tling takah tih a ni tlangpui.

Goldenhar Syndrome hi a veng thei ang em?

Kan sawi tawh ang khan, he natna hi ven dan tur chiang tak a awm lo a, a chhan dik tak chu hriat a la ni lo . Mahse, naupai lai hian doctor thurawn zawng zawng zawm a pawimawh. A bik takin, doctor thurawn tel lo chuan retinoic acid awmna damdawi (acne damdawi thenkhat ang chi) hmang suh. Tin, ei leh in hrisel ei a pawimawh bawk.

I chhungkuaa mi tu emaw chuan Goldenhar Syndrome a vei tawh a nih chuan genetic counselling lak a tha. Tichuan, fa neih i tum a nih chuan chu naupang chuan he natna hi a neih theih dan tur chu i hrethiam thei ang.

Hetiang dinhmun nen hian nun chu eng ang nge ni ang?

Hei hi i tan chuan hlauhawm deuhin a ri mai thei. Mahse, Goldenhar Syndrome vei te hmalam hun chu a inang lo hle laiin, mi tam zawk chuan result tha tak an nei a ni . Enkawlna dik tak pek a nih chuan hetiang natna vei naupangte hian nun pangngai an hmang thei tlangpui. Zirna an thiam a, an inkhelh thiam a, khawtlang nunah an tel ve thei bawk.

Doctor hnena zawh duh i neihte chu engte nge ni?

I fain he natna hi a nei tih i hriat chuan zawhna tam tak i nei thei a ni. Chutih hunah chuan doctor hnenah heng thilte hi zawt hreh suh:

• "Doctor/Miss, Goldenhar Syndrome natna lanchhuahna berte chu engte nge ni?"
• "Ka naute hian hetiang hi a nei tih hriat chian nan eng test nge ka tih ngai?"
• "Hemi atana enkawl dan tur engte nge ni? Ka naute tan eng nge tha ber?"
• "Hetiang dinhmun hi hriat belh theihna tur hmun rintlak thenkhat chu engte nge ni?"
• "Hetiang dinhmuna ding naupang leh chhungkaw tanpuitu pawl emaw nu leh pa pawl emaw an awm em?"

Heng zawhnate zawh hian thil awmdan hriatthiamna tha zawk i neih theih nan leh i fa tan a tha ber tur a pe ang che.

Goldenhar Syndrome hi rualbanlo a ni em?

Ni e, a chang chuan hetiang hi a niRualbanlo chu rualbanlo anga ngaih theih a ni. Entirnan, hriatna emaw, mit lama harsatna emaw a awm chuan rualbanlo a ni thei. Chutiang bawkin, rilru lama harsatna a awm chuan, chu mi chuan ni tin hna thawk tur leh zir turin tanpuina tam zawk a mamawh thei a ni. Chuvang chuan, an mamawh mamawh leh tanpuina pe hi khawtlang anga kan mawhphurhna a ni.

Eng dinhmun dang nge hetiang chhinchhiahna nei?

Goldenhar Syndrome ang chi natna dang engemaw zat a awm bawk. Chuvangin diagnosis dik tak neih a pawimawh hle. Heng condition thenkhat chu:

• Branchio-oto-renal natna `(Branchioootorenal (BOR) natna)` tih a ni
• CHARGE Association chuan a ti a
• Townes-Brocks natna a ni
• Treacher Collins natna a ni
• VACTERL Pawl pawl a ni

Hei hi thil buaithlak deuh angin lang mah se, doctor-te chuan diagnosis an siam hian heng zawng zawng hi an ngaihtuah vek a ni.

Kan sawi tawh atanga kan hriat reng tur chu!

Goldenhar Syndrome hi pian tirh lamah a awm fo thin a ni. Naute hmai, lu leh a chang chuan chhungril lam taksa peng hrang hrangte pianzia a nghawng ber a ni. Doctor-te chuan nausen laia hmai emaw, ruhro emaw deformities thenkhat chu operation hmangin an siam tha thei a ni.

Thil pawimawh tak chu naupang thenkhat chu an natna lan chhuah dan a nasat loh chuan enkawlna bik an mamawh lo mai thei. Tin, a tam zawkah chuan Goldenhar Syndrome vei te hi hlim takin an hmang a, a tul anga enkawlna leh puihna nen nun an tihlawhtling thin.

I fa hian heng symptoms te hi a nei nia i hriat chuan hlau suh, doctor pan nghal la, thurawn la rawh. A hmaa hriatchhuah leh enkawl dan dik chuan i fa chu hmalam hun tha zawk a pe thei a ni.

` Goldenhar syndrome, pianpui dinhmun, nau piangsual, lu leh hmai, hemifacial microsomia, oculo-auriculo-vertebral dysplasia, naupang hriselna