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Year Number of Results
1980 1
1983 2
1984 1
1985 1
1992 1
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2008 1
2013 1
2017 1
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12 results

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Page 1
Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.
Gustavson EE, Chen H. Gustavson EE, et al. Teratology. 1985 Aug;32(1):13-7. doi: 10.1002/tera.1420320103. Teratology. 1985. PMID: 4035586
Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal stenosis, and anterior encephalocele in this male infant. No similar cases in anticonvulsant-exposed pregnancies were found on literatur …
Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal ste …
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.
D'Angelo G, Marseglia L, Aversa S, Manti S, Cuppari C, Cutrupi M, Salpietro C, Gitto E. D'Angelo G, et al. Case Rep Pediatr. 2017;2017:4396142. doi: 10.1155/2017/4396142. Epub 2017 Sep 12. Case Rep Pediatr. 2017. PMID: 29138704 Free PMC article.
Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caud …
Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome
Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome.
Aleksic S, Budzilovich G, Greco MA, Epstein F, Feigin I, Pearson J. Aleksic S, et al. Eur J Pediatr. 1983 Apr;140(2):137-8. doi: 10.1007/BF00441665. Eur J Pediatr. 1983. PMID: 6884391
The neuropathological examination revealed cranium bifidum in the occipital region, defective posterior arch of the C1 vertebral body, agenesis of vermis and a large cerebellocele. It is suggested that some patients with the Goldenhar-Gorlin syndrome may have promin …
The neuropathological examination revealed cranium bifidum in the occipital region, defective posterior arch of the C1 vertebral body, agene …
Cranial defects in the Goldenhar syndrome.
Wilson GN. Wilson GN. Am J Med Genet. 1983 Mar;14(3):435-43. doi: 10.1002/ajmg.1320140306. Am J Med Genet. 1983. PMID: 6859095 Free article.
Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to …
Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, sk …
Goldenhar's syndrome associated with occipital meningoencephalocele--case report.
Kita D, Munemoto S, Ueno Y, Fukuda A. Kita D, et al. Neurol Med Chir (Tokyo). 2002 Aug;42(8):354-5. doi: 10.2176/nmc.42.354. Neurol Med Chir (Tokyo). 2002. PMID: 12206491 Free article.
A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. ...
A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and …
Craniofacial abnormalities among patients with Edwards Syndrome.
Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Graziadio C, Paskulin GA. Rosa RF, et al. Rev Paul Pediatr. 2013 Sep;31(3):293-8. doi: 10.1590/S0103-05822013000300004. Rev Paul Pediatr. 2013. PMID: 24142310 Free PMC article.
Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-a …
Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), …
Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.
Casey HD, Braddock SR, Haskins RC, Carey JC, Morales L Jr. Casey HD, et al. Cleft Palate Craniofac J. 1996 Nov;33(6):519-23. doi: 10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2. Cleft Palate Craniofac J. 1996. PMID: 8939380 Review.
The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. …
The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including he …
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.
CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. ...
CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of t …
Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome).
Aleksic S, Budzilovich G, Greco MA, McCarthy J, Reuben R, Margolis S, Epstein F, Feigin I, Pearson J. Aleksic S, et al. Childs Brain. 1984;11(5):285-97. doi: 10.1159/000120189. Childs Brain. 1984. PMID: 6499566
13 cases of Goldenhar-Gorlin syndrome are presented in which numerous central nervous system anomalies have been found. These include occipital encephalocele, hydrocephalus, aqueductal stenosis, agenesis of corpus callosum, multiple congenital lipomas and man …
13 cases of Goldenhar-Gorlin syndrome are presented in which numerous central nervous system anomalies have been found. These …
Goldenhar syndrome and hemifacial microsomia: observations on three patients.
Thomas P. Thomas P. Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092. Eur J Pediatr. 1980. PMID: 7389743
Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular m …
Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and aur …
12 results