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51:
141:
149:
314:
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with
Goldenhar syndrome will
179:
on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. While it is more usual for there to be problems on only one side, it
227:
No general consensus on the minimal diagnostic criteria exists. The syndrome is characterized by hemifacial microsomia due to underdevelopment of structures derived from the 1st and 2nd branchial arches such as eyes, ears, palate, mandible. However, the presentation of the syndrome is highly
211:
The cause of
Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.
319:
or glasses. Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids. These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).
582:
M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1:
522:
Junaid, Mohammed; Slack-Smith, Linda; Wong, Kingsley; Bourke, Jenny; Baynam, Gareth; Calache, Hanny; Leonard, Helen (2022). "Epidemiology of Rare
Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study".
612:
497:
Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et alOculo-auriculo-vertebral spectrum: a review of the literature and genetic updateJournal of
Medical Genetics 2014;51:635-645.
712:
44:
Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia
1182:
1187:
509:
Bogusiak, K., Puch, A., & Arkuszewski, P. (2017). Goldenhar syndrome: current perspectives. World
Journal of Pediatrics : WJP, 13(5), 405–415.
385:
Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). "Clinical manifestations in 17 Greek patients with
Goldenhar syndrome".
705:
463:
Araneta MR, Moore CA, Olney RS, et al. (1997). "Goldenhar syndrome among infants born in military hospitals to Gulf War veterans".
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627:
863:
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901:
1001:
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1177:
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911:
971:
868:
758:
129:, although this definition is usually reserved for cases without internal organ and vertebrae disruption.
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883:
853:
678:
1027:
926:
833:
823:
778:
1022:
906:
287:
17:
981:
818:
730:
638:
180:
has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
77:
1172:
891:
294:
896:
721:
132:
It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.
1130:
1118:
1102:
1074:
798:
738:
219:
veterans has been suggested, but the difference was shown to be statistically insignificant.
126:
119:
411:
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200:
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8:
953:
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838:
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71:
1123:
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1095:
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1006:
873:
858:
843:
643:
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298:
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Chief markers of
Goldenhar syndrome are incomplete development of the ear, nose,
536:
412:
Sudarshan P Gaurkar; Khushboo D Gupta; Kirti S Parmar & Bela J Shah (2013).
1144:
996:
743:
654:
571:
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237:
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152:
103:
99:
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1161:
810:
430:
510:
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484:
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936:
477:
10.1002/(SICI)1096-9926(199710)56:4<244::AID-TERA3>3.0.CO;2-Z
336:
The condition was documented in 1952 by
Belgian–American ophthalmologist
271:
172:
95:
255:, partial to complete atresia of external acoustic meatus, preauricular
102:
on usually one side of the body. Common clinical manifestations include
931:
264:
233:
188:
111:
604:
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184:
107:
59:
50:
920:
783:
673:
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462:
297:(seen with cerebral developmental anomalies and microphthalmia),
140:
27:
Rare birth defect; incomplete development of the face on one side
632:
384:
293:
Other features: Small stature, delayed psychomotor development,
282:. * Other organ abnormalities: cardiac defects (most frequently
616:
283:
252:
290:), and renal defects such as agenesis or multicystic kidneys.
521:
94:
characterized by incomplete development of the ear, nose,
374:
199:), and deafness or blindness in one or both ears/eyes.
215:
An increase in
Goldenhar syndrome in the children of
114:. It is associated with anomalous development of the
58:
Female with
Goldenhar syndrome, showing preauricular
720:
594:
328:Prevalence ranges from 1 in 3,500 to 8,500 births.
356:
270:Skeletal abnormalities: mandibular deformities,
1159:
125:The term is sometimes used interchangeably with
359:"Optic Nerve Head Drusen in Goldenhar Syndrome"
144:Severe Goldenhar syndrome in a 10-year-old girl
706:
1183:Syndromes with musculoskeletal abnormalities
315:require assistance as they grow by means of
228:variable. Some of its features may include:
378:
713:
699:
505:
503:
456:
76:
49:
1188:Syndromes with craniofacial abnormalities
511:https://doi.org/10.1007/s12519-017-0048-z
439:
429:
414:"Goldenhar Syndrome: A Report of 3 Cases"
197:hearing loss with craniofacial syndromes
158:
147:
139:
500:
14:
1160:
247:Otorhinolaryngological abnormalities:
163:This condition can be inherited in an
694:
491:
135:
24:
183:Other problems can include severe
25:
1199:
962:Bannayan–Riley–Ruvalcaba syndrome
590:
357:Zaka-ur-Rab Z, Mittal S (2007).
323:
769:Bonnet–Dechaume–Blanc syndrome
576:
559:
515:
405:
350:
13:
1:
764:Sakati–Nyhan–Tisdale syndrome
418:Indian Journal of Dermatology
343:
244:, eye asymmetry or dysmorphy.
187:(twisting of the vertebrae),
155:as seen in Goldenhar syndrome
1002:Tatton-Brown–Rahman syndrome
972:Benign symmetric lipomatosis
309:
222:
7:
1092:Branchio-oto-renal syndrome
967:Beckwith–Wiedemann syndrome
537:10.1016/j.jpeds.2021.09.060
203:may be associated as well.
10:
1204:
1064:Zimmermann–Laband syndrome
1016:Laurence–Moon–Bardet–Biedl
977:Klippel–Trénaunay syndrome
927:Caudal regression syndrome
902:Klippel–Trénaunay syndrome
864:Smith–Lemli–Opitz syndrome
834:Cornelia de Lange syndrome
288:ventricular septal defects
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1015:
952:
912:Rubinstein–Taybi syndrome
882:
809:
729:
664:
598:
331:
206:
65:
57:
48:
40:
35:
982:Neurofibromatosis type I
869:Snyder–Robinson syndrome
819:1q21.1 deletion syndrome
759:Saethre–Chotzen syndrome
431:10.4103/0019-5154.110876
892:Adducted thumb syndrome
854:Silver–Russell syndrome
295:intellectual disability
1028:Laurence–Moon syndrome
824:Aarskog–Scott syndrome
779:Baller–Gerold syndrome
722:Congenital abnormality
232:Ocular abnormalities:
168:
156:
145:
1178:Syndromes with tumors
1023:Bardet–Biedl syndrome
907:Nail–patella syndrome
799:Pierre Robin sequence
739:Acrocephalosyndactyly
525:Journal of Pediatrics
201:Granulosa cell tumors
162:
151:
143:
127:hemifacial microsomia
120:second branchial arch
1168:Congenital disorders
954:Overgrowth syndromes
116:first branchial arch
942:VACTERL association
897:Holt–Oram syndrome
789:Goldenhar syndrome
749:Carpenter syndrome
665:External resources
286:septal defect and
234:epibulbar dermoids
169:
165:autosomal dominant
157:
146:
136:Signs and symptoms
88:Goldenhar syndrome
36:Goldenhar syndrome
1155:
1154:
1052:Feingold syndrome
839:Dubowitz syndrome
829:Cockayne syndrome
754:Pfeiffer syndrome
688:
687:
338:Maurice Goldenhar
92:congenital defect
85:
84:
30:Medical condition
16:(Redirected from
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1136:Donohue syndrome
1112:Timothy syndrome
992:Proteus syndrome
987:Perlman syndrome
849:Robinow syndrome
794:Moebius syndrome
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72:Medical genetics
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1124:Marfan syndrome
1108:Keutel syndrome
1096:CHARGE syndrome
1080:Fraser syndrome
1038:
1037:Combined/other,
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1007:Weaver syndrome
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878:
874:Turner syndrome
859:Seckel syndrome
844:Noonan syndrome
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189:limbal dermoids
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106:, preauricular
104:limbal dermoids
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28:
23:
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12:
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1173:Rare syndromes
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1145:Fryns syndrome
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997:Sotos syndrome
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744:Apert syndrome
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599:Classification
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591:External links
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471:(4): 244–251.
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153:Limbal dermoid
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811:Short stature
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572:Who Named It?
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917:Gastrulation
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731:Craniofacial
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387:Genet. Couns
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324:Epidemiology
317:hearing aids
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242:anophthalmia
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193:hearing loss
182:
170:
131:
124:
87:
86:
1039:known locus
937:Sirenomelia
372:(1): 33–34.
272:torticollis
175:, lip, and
173:soft palate
96:soft palate
41:Other names
1162:Categories
932:Ectromelia
650:DiseasesDB
531:: 162–72.
465:Teratology
424:(3): 244.
366:JK Science
344:References
265:microsomia
257:appendages
112:strabismus
98:, lip and
90:is a rare
1141:Multiple
724:syndromes
567:synd/2300
553:238532372
310:Treatment
305:behaviors
276:scoliosis
223:Diagnosis
185:scoliosis
108:skin tags
67:Specialty
60:skin tags
18:Goldenhar
921:mesoderm
784:Cyclopia
674:Orphanet
583:243-282.
545:34626670
450:23723509
399:17100205
303:autistic
280:kyphosis
261:deafness
249:microtia
217:Gulf War
177:mandible
100:mandible
644:D006053
485:9408975
441:3667321
167:manner.
775:Other
633:164210
551:
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438:
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332:Eponym
284:atrial
263:, and
253:anotia
207:Causes
74:
884:Limbs
655:31292
622:Q87.0
549:S2CID
362:(PDF)
195:(see
639:MeSH
628:OMIM
541:PMID
481:PMID
446:PMID
395:PMID
301:and
191:and
118:and
110:and
679:374
613:ICD
570:at
533:doi
529:241
473:doi
436:PMC
426:doi
1164::
1131:19
1119:15
1110:,
1103:12
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1075:13
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714:e
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615:-
605:D
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370:9
267:.
20:)
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