Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia.
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Abstract:
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.Keywords:
Hemifacial microsomia
Anophthalmia
Goldenhar syndrome
Branchial arch
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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.
Hemifacial microsomia
Anophthalmia
Goldenhar syndrome
Branchial arch
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Goldenhar syndrome also known as the Facio-Auriculo-Vertebral Spectrum is a morphogenetic anomaly involving the first and second branchial arches. It has a varied spectrum and in 70% unilateral involvement of the face, ear and vertebral systems is seen. It is known to be accompanied with ocular and renal anomalies.
Goldenhar syndrome
Agenesis
Septum pellucidum
Branchial arch
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Abstract 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 a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3–5‐week human embryo.
Goldenhar syndrome
Dysostosis
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Hemifacial microsomia
Treacher Collins Syndrome
Goldenhar syndrome
Branchial arch
Agenesis
Facial symmetry
Mandible (arthropod mouthpart)
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Abstract The oculo‐auriculo‐vertebral (OAV) spectrum is an etiologically heterogeneous condition classically consisting of microtia, hemifacial microsomia, epibulbar dermoids, and vertebral anomalies. Other eye findings described in OAV include upper eyelid colobomas, ptosis, and varying degrees of microphthalmia or even anophthalmia. Iris and/or retinal colobomas have rarely been reported. We describe two familial cases of apparent OAV with ocular colobomas. We postulate that iris and/or retinal colobomas associated with OAV may represent a subgroup within the OAV spectrum with autosomal dominant inheritance, as in the families described herein. Since microtia can result from aberrant migration of neural crest cells into the first and second branchial arches during early embryonic development, and concomitant deficient neural crest migration into the developing eye can lead to ocular coloboma and or iris heterochromia, it may be that the altered gene or genes in our familial cases are involved with regulation of neural crest development. © 2005 Wiley‐Liss, Inc.
Coloboma
Microtia
Goldenhar syndrome
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Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality. Though most of the cases are sporadic, some familial association is also found in autosomal dominant or recessive manner. Teratogenic effect of some toxic substances may lead to the condition. Ocular abnormalities are epibulbar dermoid, lipodermoid & coloboma. Otic defects are preauricular tags, microtia, anotia & conductive hearing loss. Cardio-pulmonary & genitourinary abnormalities are common associations. Here we have described the case of a 10 years old girl had ocular, auricular & vertebral changes consistent with Goldenhar syndrome, she was managed with multidisciplinary approach and she was symptomatically improved but corrective surgery was planned as schedule of respective department.
Goldenhar syndrome
Microtia
Abnormality
Anophthalmia
Branchial arch
Coloboma
Hemifacial microsomia
Syndactyly
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Goldenhar syndrome (GS) is a poly-malformation syndrome, also defined as oculo-auricolovertebral dysplasia with hemifacial microsomia. It is a rare congenital defect involving first and second branchial arches. The aetiology is not known. The most supported hypothesis is based on the abnormal embryonic vascular supply after mesodermal migration. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have been reported. We report the case of a female neonate affected by hemifacial microsomia and presence of pre-auricular tragi. Patients were subjected to computed tomography scan and MRI that revealed a mandibular unilateral hypoplasia without association of skeleton, brain and ocular alteration. The purpose of our study was to define the important role of the CT and MRI in the diagnosis of this polymarformation syndrome.
Goldenhar syndrome
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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.
Goldenhar syndrome
Hemifacial microsomia
Anophthalmia
Encephalocele
Primidone
Aqueductal stenosis
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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.
Presentation (obstetrics)
Goldenhar syndrome
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