Retinall and Optic Nerve Findings in Goldenhar-Gorlin Syndrome

Margolis, Sheila; Aleksic, Slobodan; Charles, Norman C.; McCarthy, Joseph; Greco, M. Alba; Budzilovich, Gleb N.

doi:10.1016/s0161-6420(84)34147-1

Cited by 53 publications

(31 citation statements)

References 11 publications

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“…Ocular abnormalities are typically epibulbar dermoids and upper lid colobomas but also other eye abnormalities occur [Mansour et al, 1985], and an involvement of the posterior segment of the eye has also been described [Margolis et al, 1984]. Ear malformations are typically preauricular appendices, but microtia is also often present [Rollnick et al, 1987].…”

Section: Introductionmentioning

confidence: 99%

Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)

Källén

Robert²,

Castilla

et al. 2003

American J of Med Genetics Pt A

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Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development.

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Section: Introductionmentioning

confidence: 99%

Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)

Källén

Robert²,

Castilla

et al. 2003

American J of Med Genetics Pt A

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“…It occurs sporadically or within families [2]. Furthermore, other ocular, auricular or facial anomalies may be present, such as anomalies of the auditory canal, hypoplasia of the upper or lower jaw, macrostomia, microphthalmia, strabismus, Duane’s syndrome and ocular coloboma [3, 4]as well as widespread nervous, muscular and skeletal pathologies. The variability of the clinical image is largely due to a defect in the natural development of the first branchial arch region [5].…”

Section: Discussionmentioning

confidence: 99%

Pseudotumor cerebri in a Patient with Goldenhar’s and Duane’s Syndromes

Tillman

Kaiser²,

Killer

2002

Ophthalmologica

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A 4-year-old boy presented with Goldenhar’s syndrome, Duane’s syndrome and bilateral papilledema. Magnetic resonance imaging of the brain was unremarkable. On lumbar puncture, the cerebrospinal fluid (CSF) pressure measured 36 cm H₂O. CSF examination was normal. The diagnosis of pseudotumor cerebri was made, and treatment with acetazolamide was started. As the papilledema did not resolve, steroids were added to the treatment. Lumbar puncture was repeated after 1 month, and pressure was found to be 30 cm H₂O. Because medical treatment was not effective in lowering the CSF pressure, optic nerve sheath fenestration was performed. Papilledema resolved over the next 2 months. To the best of our knowledge, this is the first case of Goldenhar’s syndrome associated with pseudotumor cerebri.

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“…The exclusion of the autopsy cases would also lower the incidence of central nervous system anomalies. The spectrum of neurological manifestations of GoldenharGorlin syndrome is very broad, ranging from involvement of the first [3], second [35,36], third, fourth, sixth [2]; fifth [39]; seventh [1,37]; eighth, ninth and tenth [37] cranial nerves; mental retardation [4,8, 10, 13-16.20, 25, 27, 28, 42, 43, 47, 51]; increased intracranial pressure and hydro cephalus [7 .2 4 ,2 9 ,3 1,50. 52]: occipital and frontal encephalocele [8,10,24,27,28,43,52]; intracranial arachnoid cyst [7]; intracranial lipoma [19]; holoprosencephaly [52]; hypoplasia of corpus callosum [50]; intra cranial teratoma [49]; lissencephaly [23] intracranial dermoid cyst [40]; Amold-Chiari malformation [38]; cranium bifidum, dolichocephaly, microcephaly and many other skull anomalies [4-7, 15, 21, 48]; limb hypoplasia with weakness of respective muscle groups [34]; Klippel-Feil anomaly of cervical spine [26] and many other malformations of the spinal column [21,44] and absence of spinal cord amyelia [52], It has been suggested that there is a marked degree of correlation between the degree of facial hypoplasia and the severity of mental retar dation [8].…”

Section: Discussionmentioning

confidence: 99%

Intracranial Lipomas, Hydrocephalus and Other CNS Anomalies in Oculoauriculo-Vertebral Dysplasia (Goldenhar-Gorlin Syndrome)

Aleksic¹,

Budzilovich²,

Greco³

et al. 1984

Pediatr Neurosurg

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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 many others. Pertinent literature has been reviewed. It is concluded that any part of the central nervous system can be involved in this condition and that careful evaluation is indicated in order to rule out a treatable intracranial anomaly.

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Retinall and Optic Nerve Findings in Goldenhar-Gorlin Syndrome

Cited by 53 publications

References 11 publications

Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)

Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)

Pseudotumor cerebri in a Patient with Goldenhar’s and Duane’s Syndromes

Intracranial Lipomas, Hydrocephalus and Other CNS Anomalies in Oculoauriculo-Vertebral Dysplasia (Goldenhar-Gorlin Syndrome)

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