Inner Ear Abnormalities in Patients with Goldenhar Syndrome

Bisdas, Sotirios; Lenarz, Minoo; Lenarz, Thomas; Becker, H.

doi:10.1097/01.mao.0000169796.83695.56

Cited by 45 publications

(47 citation statements)

References 16 publications

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“…This type of anomaly has been reported once in patients with the Goldenhar syndrome with a low frequency (36% of cases). 34 The high frequency of inner ear involvement in patients with OAVS and radial anomalies could suggest that this is a common clinical sign of this subset.…”

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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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: 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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“…The literature contains several descriptions of chromosomal anomalies and gestational exposure that mimic its phenotype (thalidomide, retinoic acid, and diabetes mellitus) 2 . Although external ear anomalies have been described in OAVS patients -to the point of being inclusion criteria -middle and especially inner ear alterations have received little attention in the literature [9][10][11][12][13] . Thus, the purpose of this study was to investigate the clinical findings in a sample of OAVS patients, focusing on ear alterations.…”

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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“…Absence of the third part of facial nerve was ascribed to petrous bone hypoplasia and to the semicircular canal hypoplasia. 10,11 The vestibule and cochlea hypoplasia was a sign of otic capsule anomalies. 10,11 All these osseous structures undergo a cartilagineous phase to reach a complete bone structure.…”

Section: Discussionmentioning

confidence: 99%

“…10,11 The vestibule and cochlea hypoplasia was a sign of otic capsule anomalies. 10,11 All these osseous structures undergo a cartilagineous phase to reach a complete bone structure. 3 Kay and Kay 9 demonstrated that an interference with cranial base chondrogenesis could be the cause of hemifacial microsomia: in OAVS cranio-facial development, interactions between NCCs and epithelial matrix are relevant in chondrogenesis as well as in osteogenesis; defects in cell differentiation or interaction may be present in the anlagen, leading to abnormal chondro-osteogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…9 Errors in chondrogenesis, due to pathological influences by notochordal and paraxial mesoderm or to a pathological primary mesoderm, 3 should be responsible for the secondary abnormalities in formation, migration and/or differentiation of NCCs, 3 with consequent abnormal development of the first branchial arch 9 (originating Meckel's and palatoquadrate cartilage, mandible, malleus, incus, zygoma, squamous bone, and masticatory muscles) and of the second arch (originating stapes). 9,10 Hemifacial microsomia, microtia, external auditory canal stenosis, and middle ear hypoplasia were ascribed to abnormal skull base cartilage abnormality; the zygomatic arch defect may have occurred secondary to cranial base and sphenoid cartilage abnormality, 7,9 causing a new orientation of temporal bone, and to masseter muscle abnormal attachment. 9 The right side cavity involving middle ear was ascribed, in our patient, to cholesteatoma, arised in a malformed tympanic cavity with ossicles destruction.…”

Section: Discussionmentioning

confidence: 99%

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Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia

et al. 2015

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We report on a female with oculo-auriculo-vertebral spectrum, low height, and on X-ray lambdoid suture synostosis, cerebral cyst/mild holoprosencephalia and cholesteatoma, and multiple abnormalities of bones of chondral origin. On the right side, maxillary, mandibular bones, external auditory canal, middle ear were hypoplastic as well as semicircular canal, cranial base, bones vestibule. On the left side, coclea, timpanic cavity, mastoid antrum were hypoplastic, while stapes was misshapen. Limbs bones were slender with thin metaphyses and some carpal bones were absent. Hand second phalanx was hypoplastic and fifth finger presented clynodactily. Lambdoid synostosis expressed membranous ossification abnormality. We hypothesize that during the blastogenesis a mutation of a factor responsible for abnormal generalized endochondral and connectival ossification (possibly fibroblast growth factor receptor) occurs. IntroductionOculo-auriculo-vertebral spectrum (OAVS) 1,2 is charachterized by hemifacial hypoplasia, eye, auricular and vertebral defects, and hypoplasia of soft and bony tissues, mainly in the face widespread to many other tissues. The pathogenesis of this condition is complex due to external and genetic causes; many cases are sporadic, but familial instances are also reported. Phenotypes of OAVS are variable and incomplete formsare common.We report on a patient with OAVS, low height and weight, multiple cerebral malformations, synostosis of lambdoidal suture cartilage, and bone multiple defects demonstrated by X-ray, for which we hypothesized a congenital diffuse chondro-osteodysplasia. Case ReportThe aunt of the proposita presented hemifacial microsomia, bilateral stenosis of external auditory canal, and middle ear cholesteatoma. During gestational age, her mother suffered from anemia, gastritis and colitis, while her father was exposed to toxic agents. It was her mother's first pregnancy. The following pregnancy ended in aborted fetus with multiple anomalies and semilobar holoprosencephaly. The proposita, born at term, presented a birth weight of 1850 g, length was 36.7 cm, head circumference 27.5 cm (all below the third percentile).Physical examination showed cranio-facial asymmetry, right hemifacial microsomia, brachyplagiocephaly, right parietal bossing, micrognathia, ocular hypotelorism, upslanting palpebral fissures with epicanthus, left exotropia, bilateral malformed ears with narrow right external auditory canal, pigmentation of the retina. Feet and hands were small, with flexion and clynodactily of all fingers; muscular hypotonia and hypotrophy were present. At sonography, heart, liver, spleen, kidney, ureters and bladder were normal. Skull X-ray demonstrated craniosynostosis of coronal and (partial) lambdoid sutures. Computed tomography (CT) scan demonstrated a large area, filled with cerebrospinal fluid, communicating with lateral ventricles in the fronto-parieto-occipital region, a condition confirmed at 1 year of life, when magnetic resonance imaging (MRI) showed partial agenesis of the...

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Inner Ear Abnormalities in Patients with Goldenhar Syndrome

Cited by 45 publications

References 16 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)

Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia

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