Okuloaurikulovertebrales Spektrum und Kieferhöhlenvolumina

Hofmann, Elisabeth; Detterbeck, Andreas; Chepura, Taras; Kirschneck, Christian; Schmid, Matthias; Hirschfelder, Ursula

doi:10.1007/s00056-018-0141-5

Cited by 4 publications

(6 citation statements)

References 31 publications

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“…The phenotype of each affected individual can vary greatly in severity, depending on the activation and degree of penetration of the defective gene. Among ocular manifestations, epibulbar choristoma is present in one third of the patients with SG, with the unilateral occurrence about 50% [3,5,6]. Other common manifestations such as microphthalmia, lipodermoids and coloboma, strabismus, cataracts, and epicanthic folds are also described together with anophthalmia, anomalies of the Fig.…”

Section: Discussionmentioning

confidence: 99%

“…A defect in the embryonic period with imbalance in cells during blastogenesis affects the derivatives of the first and second brachial arches explaining the manifestations of the syndrome [8]. Chromosomal aberrations such as 3del (5p), del (6q), del (8q) (161), del (18q), del (22q), recombinant chromosome 18, ring chromosome 21 and dup (22q), maternal and fetal hypoxia, hypertension, maternal diabetes, influenza or rubella viral infection, malnutrition, smoking, radio-diagnostic procedures between the 4th and the 6th week of pregnancy, exposure to drugs such as cocaine, tamoxifen, ibuprofen, retinoic acid and consanguineous marriage are possible predisposing factors [1,3,4,6,7].…”

Section: Discussionmentioning

confidence: 99%

“…Classified as a subtype of craniofacial microsomia, it is also known as oculo-auriculovertebral dysplasia [1,2,[4][5][6][7][8]. It is characterized by the classic triad: mandibular hypoplasia with facial asymmetry, oculo-auricular malformations and vertebral abnormalities [1,2,4].…”

Section: Introductionmentioning

confidence: 99%

“…It is characterized by the classic triad: mandibular hypoplasia with facial asymmetry, oculo-auricular malformations and vertebral abnormalities [1,2,4]. Among other changes, it is possible to observe choristomas, microphthalmia, strabismus, cataracts, coloboma of iris and retina, coloboma of upper eyelid, auricular appendage, asymmetry of the ears, atresia of the auditory external canal, hemifacial microsomia, facial asymmetry, mandibular and/ or maxillary hypoplasia, dental alterations such as supernumerary teeth, Fallot's tetralogy, dextrocardia, transposition of the great vessels, atresia in the gastrointestinal tract, scoliosis, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and several other alterations described [1,2,6]. Despite the variety of signs and symptoms, the diagnosis is based on clinical examination and complementary tests, such as radiological and blood tests [4,6].…”

Section: Introductionmentioning

confidence: 99%

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Goldenhar syndrome: the importance of an ophthalmological approach

Malta¹,

Vilani²,

Miranda³

et al. 2020

rjo

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The article describes a case of Goldenhar syndrome that had been diagnosed by an ophthalmologist in a medical consultation by school bullying due to a choristoma. A 15-year-old male patient, who had a nodular lesion with hair in the inferior temporal corneal-limbo-conjunctival of the left eye, was reported. He also had a facial asymmetry, with mild mandibular hypoplasia and malformation of the left external ear, where only an auricular appendage was formed. He denied similar family history and the history of genetic diseases, but revealed that his mother had used ibuprofen during the first 3 months of pregnancy and had gestational diabetes mellitus. Excisional biopsy of the eye lesion was performed and revealed a dermoid cyst. After the exegesis and with adequate multidisciplinary monitoring, the patient reported being very satisfied with the aesthetic result, returning with more confidence to his daily activities. That was a typical case of Goldenhar syndrome that has remained undiagnosed and untreated for more than a decade due to a lack of diagnosis despite its classic presentation. The delay in the approach resulted in social stigma and profound psychosocial damage. The importance of disseminating the correct knowledge of this pathology and of having an early multidisciplinary approach in these patients is emphasized, since the impact on the quality of life is significantly high.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Goldenhar syndrome: the importance of an ophthalmological approach

Malta¹,

Vilani²,

Miranda³

et al. 2020

rjo

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show abstract

“…1,35 También, se han reportado pacientes con desfase de la salivación debido a una aplasia de las glándulas salivales, lo cual genera, pérdida del flujo salival, motivo que puede causar defectos en la capacidad de deglución y deterioro del habla, acompañado de síntomas de ardor crónico por afectación de la mucosa, disgeusia, caries dental, infecciones frecuentes y queilitis angular. 34,36,37 Del mismo modo, algunos artículos reportan la presencia de cóndilo bífido y taurodontismo; en el caso de los pacientes con presencia de cóndilo bífido se observa una limitación para la apertura bucal, lo cual genera una deficiente higiene bucal que desencadena caries y gingivitis. 37 Además se han observado casos de macrostomia, que se caracterizada por una hendidura facial, donde la comisura oral se extiende lateralmente a través del músculo buccinador y del masetero.…”

Section: Manifestaciones Bucalesunclassified

Manifestaciones bucales del espectro oculo-aurículo-vertebral (Síndrome de Goldenhar): Una revisión narrativa

Martínez-Chávez

Pacheco-Galván

2022

CyRS

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Introducción. El espectro oculo-auriculo-vertebral (OAVS, por sus siglas en inglés) también conocido como Síndrome de Goldenhar, es una condición congénita poco frecuente en la que se presentan alteraciones que deben ser tratadas por el odontólogo con un enfoque multidisciplinario. Objetivo. Presentar el estado del arte del conocimiento sobre las principales manifestaciones bucales y el abordaje estomatológico en pacientes pediátricos con espectro oculo-aurículo-vertebral. Desarrollo. El OAVS se caracteriza por alteraciones en las estructuras que se originan del primer y segundo arcos branquiales. Las principales alteraciones bucodentales que se presentan en el OAVS son (i) la hipoplasia mandibular, (ii) agenesia de la rama y cóndilo, cóndilo bifido (iii) desfase de la salivación debido a una aplasia de las glándulas salivales, (iv) defectos en la capacidad de deglución, (v) alteraciones del habla, (vi) taurodontismo, (vii) macrostomia. En el caso de los pacientes con presencia de cóndilo bífido se observa una limitación para la apertura bucal, lo cual genera una deficiente higiene bucal que desencadena caries y gingivitis. Por tal motivo, el odontólogo debe tener el conocimiento de dicho síndrome para proporcional un tratamiento integral con un enfoque multidisciplinario. Conclusión. El papel que juega la estomatología dentro del tratamiento multidisciplinario de los pacientes con OAVS es fundamenta, para que el diagnóstico preciso y oportuno permita brindar un tratamiento integral y multidisciplinario. Es importante la realizar un tratamiento individualizado en conjunto con un equipo multidisciplinario, donde se destaque la relevancia del papel del estomatólogo pediatra.

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Three-Dimensional Measurement of Maxillary Involvement in Hemifacial Microsomia in Children

Zhang

et al. 2020

Journal of Craniofacial Surgery

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In hemifacial microsomia (HFM), the aberrant mandible structure has always been the focus of attention. How the maxillary development being affected is not clear. The authors sought to comprehensively evaluate the hemifacial maxillary deficiency and to assess for Pruzansky-Kaban score correlation. This is a retrospective research of children with HFM. Demographic information were recorded, and computed tomographic scan were reconstructed and analyzed by segmentation, volumetric and cephalometric measurements. Analyses involved paired t-test, independent sample t-test and one-way analyses of variance. Demographic information revealed 67 patients diagnosed with HFM were included: 10.4 percent type I, 38.8 percent IIa, 28.4 percent type IIb, 22.4 percent type III. The maxillary total volume was found to be significantly decreased on the affected side in patients with type IIa (P = 0.0426) and IIb (P = 0.0004). No notable differences in maxillary sinus volume were found. No significant differences in maxillary width measurements were found between groups type I and III. A descending trend in maxillary bone volume ratio, an increasing trend in maxillary posterior width ratio and a decreasing trend in maxillary middle height ratio was observed from group I to IIb (pmbv∗ = 0.020; pmpw∗ = 0.002; pmmh∗ = 0.004). This study comprehensively characterized the hemifacial microsomia maxillary deficiency. For maxillary total volume and transverse development, the type III group presented characteristics similar to the type I group. We concluded that the severity of maxillary deficiency is not completely consistent with the mandibular deformity classification.

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Okuloaurikulovertebrales Spektrum und Kieferhöhlenvolumina

Cited by 4 publications

References 31 publications

Goldenhar syndrome: the importance of an ophthalmological approach

Goldenhar syndrome: the importance of an ophthalmological approach

Manifestaciones bucales del espectro oculo-aurículo-vertebral (Síndrome de Goldenhar): Una revisión narrativa

Three-Dimensional Measurement of Maxillary Involvement in Hemifacial Microsomia in Children

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