Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients

Rollnick, Beverly R.; Kaye, Celia I.; Nagatoshi, Konrad; Hauck, Walter W.; Martın, Alice O.

doi:10.1002/ajmg.1320260215

Cited by 328 publications

(311 citation statements)

References 27 publications

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“…2,4,5,20 In relation to OAVS with radial defects, the presence of some systemic anomalies did not exceed that observed in previously reported cases with OAVS except, the cardiovascular defect that was detected in 33.3% of the patients here studied and in 92.8% of the cases in the literature. 3,6 -8,11 -17,19 -24 These data support the hypothesis that cardiovascular defects are a frequent clinical sign of OAVS with radial defect.…”

Section: Discussionsupporting

confidence: 53%

“…Clinically, it ranges from isolated microtia with or without mandibular hypoplasia, to a more complex phenotype with skeletal, cardiac, renal, pulmonary, and central system manifestations. 2,5 The pathogenetic mechanisms involved have been a matter of controversy and theories 2,30,31 but so far, no definitive causal agent could be found. It has been postulated that the Goldenhar syndrome represents a defect of blastogenesis 32 that could be attributed to interferences in cephalic neural crest cell migration, 33 however, in some cases of OAVS with multi systemic malformations, the involvement of several developmental fields do not sustain a localized damage.…”

Section: Discussionmentioning

confidence: 99%

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Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

2007

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The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as mandible hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

2007

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“…Microtia is usually associated with the involved side of the face 16,17 , as shown on Table 1. Occasionally both ears may be involved (18% to 50% of cases) 7,16 , as seen in 33% of our study subjects. Common minor ear anomalies in these patients include preauricular appendages and pits.…”

Section: Discussionmentioning

confidence: 52%

“…Its estimated prevalence is 1 case for every 5,600 to 26,550 births [4][5][6] ; the condition affects males more than females (about 3:2) 2 . The OAVS may range from mild to severe forms; facial involvement is usually asymmetric, occurring mostly on the right 2,7 . The origin of the OAVS is unclear, but it is a complex and heterogeneous condition.…”

Section: Introductionmentioning

confidence: 99%

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Rosa¹,

Silva²,

Goetze³

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. Purpose To investigate the ear abnormalities of a sample of patients with OAVS. Materials and methods The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. Results Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. Conclusions Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

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“…Although most cases are sporadic, familial occurrences have been observed [3]. The etiology of GS remains unknown.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome: A Case Report with Review of Literature

Lakshman¹

2017

MOJBM

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Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the ear prosthesis.Keywords: Goldenhar syndrome; Hypoplasia of malar Bone; Facial palsy; Ear tags; Ocular dermoids vertebral malformation complex [1,2]. We are reporting a case of Goldenhar syndrome in a 6 year old boy with ear deformities, ocular dermoids, facial paralysis, mental retardation and skeletal abnormalities with hypoplasic malar and maxillary bone. Case ReportA 6 year old male patient, born of non consanguineous marriage, presented to our department with the complaint of deformed left ear since birth. It was associated with decreased hearing. Medical history revealed cleft palate surgery at the age of 1 year. The child was born of a full-term normal delivery and there was no history of any maternal illness during the pregnancy. But the child was cyanotic at the time of birth. All other family members were normal. Personal history showed normal bowel and bladder habits, undisturbed sleep. On General Examination, he was conscious and cooperative but had reduced grasping power and learning skills. Vital signs were within normal limits with no peripheral signs. Altered posture was noticed as the shoulder levels were not at same level (Figure 1). On extra oral examination, facial asymmetry was detected due to hallowing of left cheek and hypoplasia of left malar region, hypoplasia of maxillary bone and prognathic mandible (Figure 2). Facial profile was straight and leptoprosopic facial form was noticed. Deformed left ear and ear tags were seen on the right side (Figure 3). Hypertelorism was present. Ocular changes showed whitish area near outer canthus of both eyes approximately measuring 1X1cms suggestive of epibulbar dermoids on both sides (Figure 4). Cranial nerve examination revealed left facial nerve paralysis as he was unable to raise his eyebrows, no wrinkles on the forehead and unable to blow the cheeks on left side. On Intraoral Examination, palatal scar noticed suggestive of previous surgery for cleft palate and hard tissue examinations showed multiple root stumps and Angle's class III malocclusion. The orthopantomograph showed mixed dentition ( Figure 5) and the lateral cephalograph revealed malar and maxillary hypoplasia ( Figure 6). We diagnosed the patient as a case of Goldenhar syndrome on the basis of multiple accessory tragi, ocular dermoids, hypoplastic malar process, facial nerve paralysis, mental retardation and skeletal abnormalities. Patient was referred for auricular surgery followed by ear prosthesis replacement.

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Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients

Cited by 328 publications

References 27 publications

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Goldenhar Syndrome: A Case Report with Review of Literature

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