Etiologic heterogeneity in the oculoauriculovertebral syndrome

Setzer, Emmalee S.; Ruiz-Castaneda, Norman; Severn, Charles; Ryden, Sally E.; Frías, Jaime L.

doi:10.1016/s0022-3476(81)80547-1

Cited by 63 publications

(24 citation statements)

References 5 publications

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“…Goldenhar syndrome is a birth defect resulting from the mal-development of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible [2][3][4]. The phenotype is highly variable.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome associated with Vestibular Fistula and Esophageal Atresia – A Rare Association

et al. 2018

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Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome associated with Vestibular Fistula and Esophageal Atresia – A Rare Association

et al. 2018

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“…Diabetes, ingestion of teratogenic drugs during pregnancy, exposure right auricular pavilion with atresia of the external auditory canal, right nasal fossa malformation with deviated septum, and complex vertebral malformation without clinical expression. Ear abnormalities in Goldenhar syndrome include acrotia, microtia, preauricular tag, and auricular fistula [4,13,14]. Middle or inner ear abnormalities and the absence of external ear canal can cause conductive hearing loss in 50% of cases [14].…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome

Costea

2015

J Clin Res Ophthalmol

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Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-years-old male patient. There are no other identified cases of congenital diseases in the patient's family history. At the age of 2, the patient was operated for complete right cleft lip and cleft palate dehiscence and it was then, that the suspicion for Goldenhar syndrome was harboured.The Goldenhar Syndrome diagnosis is clinical, as there are no specific genetic tests to detect this condition. The patient's karyotype was performed in the Genetics Clinic in order to order to exclude an eventual chromosomal abnormality. The result had been normal (46, XY).The ophthalmologic examination revealed the microphthalmia of the right eyeball. The ENT exam revealed facial dysmorphism, malformation of the right auricular pavilion with atresia of the external auditory canal and right nasal fossa malformation with deviated septum. The CT examination revealed a right orbit reduced in size, the right eyeball reduced in size with numerous annular calcifications, cleft lip and cleft palate, the area of the bone defect being occupied by soft tissue; flawed implanted dystrophic teeth; hypoplasia of the vertical and horizontal branch of the mandible; absence of the tympanic bone and the right external auditory canal; internal auditory canals, present semicircular ducts and complex vertebral malformations. Being a rare syndrome with many defects, early diagnosis is important, in order to apply appropriate treatment.

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“…No isolated genetic defect has been confirmed as responsible for the syndrome, though there are small studies that support both an autosomal dominant [13,14,15,16] and autosomal recessive [15] inheritance pattern in some families, and underlying gene defects have been theorized. The recurrence risk is about 3–6% [17]. There has been no proven association of Goldenhar syndrome with any maternal infection, medication or other insult.…”

Section: Discussionmentioning

confidence: 99%

Posterior Fossa Dermoid Cyst in a Patient with Goldenhar Syndrome

Dange

Bonde²,

Goel³

et al. 2007

Pediatr Neurosurg

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A 7-year-old boy with Goldenhar syndrome was diagnosed to have a posterior cranial fossa dermoid cyst. The presence of such a combination of clinical entities has not been reported earlier. The embryonic dysgenesis causing midline posterior fossa dermoid and other anomalies observed in Goldenhar syndrome occur between the third and fifth week of intrauterine life and are probably interrelated. This report emphasizes the need for a high index of suspicion and the value of cranial imaging in a case with Goldenhar syndrome.

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Etiologic heterogeneity in the oculoauriculovertebral syndrome

Cited by 63 publications

References 5 publications

Goldenhar Syndrome associated with Vestibular Fistula and Esophageal Atresia – A Rare Association

Goldenhar Syndrome associated with Vestibular Fistula and Esophageal Atresia – A Rare Association

Goldenhar Syndrome

Posterior Fossa Dermoid Cyst in a Patient with Goldenhar Syndrome

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