Goldenhar's Syndrome Associated With Occipital Meningoencephalocele. Case Report.

Kita, Daisuke; Munemoto, S; Ueno, Y.; Fukuda, Akiko

doi:10.2176/nmc.42.354

Cited by 13 publications

(11 citation statements)

References 3 publications

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“…1 It presents with variable features but the consistent findings are, hemifacial microsomia, weakness of the muscles of mouth and teeth, dermoid in the eye, some degree of hearing loss, external auditory appendages etc. 1,2 Patients may also have skeletal, cardiac, renal and CNS abnormality. It is more common in the males (70%).…”

Section: Introductionmentioning

confidence: 99%

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Ghimire

Thapa

Shrestha

et al. 2011

Journal of Institute of Medicine

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An eleven years female presented with recurrent chest infection since childhood with markedly diminished air entry on her right chest and mediastinal shift. She also had vague facial deformity with multiple auricular appendages. Computed tomography showed collapse of the left lung and on thoracotomy, complete agenesis of the left lung was noted. Goldenhar anomaly is rare and presents with variable degree of external anomaly. Its association with bronchopulmonary agenesis is extremely rare with few cases reported in the world literature. Features of other congenital should be sought for in a child with facial asymmetry, external auditory appendages, malformation of the, nose, soft palate, lip and mandible etc so that appropriate treatment can be administered.

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Section: Introductionmentioning

confidence: 99%

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Ghimire

Thapa

Shrestha

et al. 2011

Journal of Institute of Medicine

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“…Congenital diaphragmatic hernias, as well as encephalocele, have been associated previously with Goldenhar syndrome 25,35…”

Section: Discussionmentioning

confidence: 98%

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

Farra

Yunis

Yazbeck³

et al. 2011

TACG

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Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.

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“…In the expanded OAVS, extrafacial findings may be expressed to a greater degree. A summary of literature data shows occasional cases of coexisting encephalocele in patients with GS: Guzman [8] observed meningoencephalocele in at least ten cases; Gupta et al [9] described a patient with an anterior encephalocele; Daisuke et al [10] discussed the case of a neonate with GS and occipital meningoencephalocele, a cerebellocele, caused by dysraphism of the foramen magnum.…”

Section: Discussionmentioning

confidence: 99%

Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

D’Angelo

Marseglia

Aversa

et al. 2017

Case Reports in Pediatrics

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Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

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Goldenhar's Syndrome Associated With Occipital Meningoencephalocele. Case Report.

Cited by 13 publications

References 3 publications

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

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