First and second branchial arch syndromes: multimodality approach
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Keywords:
Hemifacial microsomia
Goldenhar syndrome
Neuroradiology
Branchial arch
Panoramic radiograph
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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Hemifacial microsomia
Treacher Collins Syndrome
Goldenhar syndrome
Branchial arch
Agenesis
Facial symmetry
Mandible (arthropod mouthpart)
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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.
Goldenhar syndrome
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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.
Goldenhar syndrome
Hemifacial microsomia
Craniofacial abnormality
Branchial arch
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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.
Hemifacial microsomia
Goldenhar syndrome
Microtia
Dysostosis
Facial symmetry
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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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Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks. Am. J. Med. Genet. 90:303–309, 2000. © 2000 Wiley-Liss, Inc.
Hemifacial microsomia
Microtia
Goldenhar syndrome
Craniofacial abnormality
Dysgenesis
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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.
Hemifacial microsomia
Goldenhar syndrome
Microtia
Facial symmetry
Dysostosis
Etiology
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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.
Goldenhar syndrome
Hemifacial microsomia
Microtia
Vertebra
Dysostosis
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Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks. Am. J. Med. Genet. 90:303–309, 2000. © 2000 Wiley-Liss, Inc.
Hemifacial microsomia
Microtia
Goldenhar syndrome
Craniofacial abnormality
Dysgenesis
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Citations (18)