Goldenhar 's syndrome: case report

Adeoye, AO

doi:10.4314/eamj.v79i9.9125

Cited by 3 publications

(3 citation statements)

References 3 publications

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“…Additionally, there have been case studies describing less frequently encountered syndromes . Two cases of Goldenhar, or oculo-auriculo-vertebral, syndrome have been described in a 3-day-old child in Nigeria (Adeoye, 2002) and a 15-month-old child in South…”

Section: Pendred Syndromementioning

confidence: 99%

The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

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Section: Pendred Syndromementioning

confidence: 99%

The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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“…There had been previous reports of this rare condition in Nigeria by Ibrahim et al [13], Adeoye [15] and Bekibele et al [16]. Adeoye reported the case in a 3 month old baby and traditional medication in the first trimester of pregnancy was implicated in the aetiology.…”

Section: Discussionmentioning

confidence: 92%

Goldenhar Syndrome in a Nigerian Child: A Case Report

Omolase

et al. 2017

AOVS

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A three year old Nigerian girl presented with features suggestive of Goldenhar syndrome. The patient presented with lacrimation in the left eye and this prompted the maternal grandmother to bring the child to the hospital. No similar occurrence in the family of the patient. Multidisciplinary approach was adopted in the care of the patient. However no significant systemic abnormality was discovered. The need to create awareness about this rare disease cannot be overemphasized.

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“…It is considered to be the result of blastogenesis defect that involves structures arising from the fi rst and second branchial arches 1,2 . It is mostly sporadic condition and inherited very rarely, therefore aetiology in most cases is diffi cult to assess 3 . Some cases appear genetic while other occurring in sporadic manner most probably due to environmental factors 4 .…”

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confidence: 99%

Oculo-auriculovertebral Spectrum with Radial Anomaly: A Rare Case Report

Kumar¹,

Gupta²,

Rai³

et al. 2016

Indian Journal of Physical Medicine and Rehabilitation

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Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the fi rst and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral microtia, microphthalmia and facial nerve palsy along with vertebral anomalies with additional signs as unilateral hearing loss and radial limb anomalies. OAVS with radial defect and limb abnormalities is a rare presentation and thus reported..

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Goldenhar 's syndrome: case report

Cited by 3 publications

References 3 publications

The genetic basis of deafness in populations of African descent

The genetic basis of deafness in populations of African descent

Goldenhar Syndrome in a Nigerian Child: A Case Report

Oculo-auriculovertebral Spectrum with Radial Anomaly: A Rare Case Report

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