Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure
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Abstract 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 anticonvulsantexposed pregnancies were found on literature review, despite the increased incidence of other anomalies following such exposure. Goldenhar syndrome, especially related to rare central nervous system anomalies, is reviewed. Experimental production of hemifacial microsomia by a folic acid antagonist, triaxene, is mediated via hemorrhage in the fetus. Intraventricular hemorrhage was noted in this infant as were dilated lateral and third ventricles. The hemorrhagic diathesis and/or the folic acid depletion of newborns following fetal anticonvulsant exposure may have been the underlying mechanism.Keywords:
Goldenhar syndrome
Hemifacial microsomia
Anophthalmia
Encephalocele
Primidone
Aqueductal stenosis
Four cases of hemifacial microsomia with unilateral anophthalmia are presented and various nosologic problems in the branchial arch dysplasias are discussed. Hemifacial microsomia with unilateral anophthalmia may or may not represent a formal genesis syndrome and nosologic entity different from other types of hemifacial microsomia. The disorder is not in reality a branchial arch dysplasia, but rather a complex dysmorphogenetic syndrome.
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Abstract The predominant defects in this nonrandom association of craniofacial anomalies represent problems in morphogenesis of the first and second branchial arches, usually of a unilateral nature. These may be accompanied by vertebral and/or ocular abnormalities. The many terms used for this complex indicate the broad spectrum of anomalies described and emphasized by those reporting them. This entity has been known as hemifacial microsomia, oculo‐auriculo‐vertebral dysplasia, Goldenhar syndrome, Goldenhar‐Gorlin syndrome, first and second branchial arch syndrome, and lateral facial dysplasia.
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The predominant defects in this non-random association of craniofacial anomalies represent problems in morphogenesis of the first and second branchial arches, usually of a unilateral nature. These defects may be accompanied by vertebral and/or ocular abnormalities. The many terms used for this complex indicate the broad spectrum of anomalies described and emphasized by those reporting them. This entity has been known as hemifacial microsomia, craniofacial microsomia, oculo-auriculo-vertebral dysplasia, Goldenhar syndrome, Goldenhar–Gorlin syndrome, first and second branchial arch syndrome, and lateral facial dysplasia. Management best occurs in the setting of a multidisciplinary team.
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Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.
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We describe the dental and craniofacial anomalies of 2 ethnically distinct patients with Goldenhar syndrome, which is characterized by hemifacial microsomia, facial asymmetry, and ear and dental abnormalities. A 7-year-old Japanese girl and 12-year-old Turkish boy with Goldenhar syndrome were examined clinically and radiographically; both had symptoms of hemifacial microsomia. Multiple organ involvement can limit surgical correction of deformities and affect patient management. Therefore, long-term regular follow-up by a multidisciplinary team is important to monitor the growth and development of patients. (J Oral Sci 53, 121-124, 2011)
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Abstract Oculo-auriculo-vertebral spectrum (hemifacial microsomia, Goldenhar syndrome) In the 1960s, hemifacial microsomia was defined as a condition affecting primarily aural, oral, and mandibular development. The disorder varies from mild to severe, and involvement is limited to one side in many cases, but bilateral involvement is also known to occur, with more severe expression on one side. Goldenhar syndrome is considered a variant of this complex, characterized additionally by vertebral anomalies and epibulbar dermoids (55). The condition is now known to be extremely complex and heterogeneous. Thus, in the present edition we have employed the term oculo-auriculo-vertebral (OAV) spectrum.
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We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). 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. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and kidney agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition.
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Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS) is characterized by preauricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape. The presence of anomalies of the ear is necessary for diagnosis. In addition to craniofacial anomalies, there may be cardiac, genitourinary and central nervous system defects. This syndrome is usually thought to be caused by abnormalities of the first and second branchial arches. The phenotypical findings of this syndrome are variable due to heterogenous etiology. We report here a newborn with OAVS presented with left hemifacial microsomia, hypoplasia of depressor anguli oris muscle, microtia, deafness and ventricular septal defect and diognosed OAVS.
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The oculo-auriculo-vertebral spectrum (OAVS) or goldenhar syndrome is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebra malformations. Congenital heart defects (CHDs) have been reported in 5-58% of these patients.We report a 20 year old male patient diagnosed with tetrology of fallot and oculo auriculo vertebral syndrome.
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