Unilateral semicircular canal aplasia in Goldenhar's syndrome.
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A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism. (+info)
Goldenhar's syndrome associated with occipital meningoencephalocele--case report.
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A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. Three-dimensional computed tomography images clearly showed a suboccipital cranial cleft extending to the foramen magnum and hypogenesis of the left temporal bone. The patient died of heart failure due to ventricular septal defect at age 5 months. (+info)
Cervical spine instability in children with Goldenhar's syndrome.
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OBJECTIVE: To study the vertebral involvement of the cervical spine, in particular the stability of C1-C2, in children with proven Goldenhar's syndrome. DESIGN: A case review. SETTING: The Children's Hospital of Eastern Ontario, Ottawa. PATIENTS: Eight children who had a minimum of 2 out of 3 Goldenhar criteria plus other strong associations with the syndrome and for whom detailed radiographic spinal assessment, including flexion-extension views of the cervical spine and computed tomography of the congenital anomalies, were available. OUTCOME MEASURES: Radiographic findings. RESULTS: Seven children demonstrated cervical spine anomalies. Of particular concern was the high incidence of C1-C2 instability in 3 children, 2 of whom required occiput to C2 fusion. The presence of hemivertebrae and failures of segmentation were most common and resulted in thoracic scoliosis, leading to spinal fusion in 2 children. CONCLUSIONS: In patients with Goldenhar's syndrome the cervical spines must be monitored carefully for C1-C2 subluxation before any proposed surgery for other malformations associated with the syndrome, so that any instability can be identified to avoid cord impingement during a general anesthetic. (+info)
Goldenhar's syndrome--case report.
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Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition (+info)
Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome--a case report.
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This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy. (+info)
Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy.
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Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report. (+info)
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
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Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting. (+info)
Autism with ophthalmologic malformations: the plot thickens.
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PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Mobius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Mobius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Mobius study, 28 children with a diagnosis of Mobius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Mobius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Mobius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome. (+info)