Literature DB >> 12206491

Goldenhar's syndrome associated with occipital meningoencephalocele--case report.

Daisuke Kita1, Shigeru Munemoto, Yasunao Ueno, Akiko Fukuda.   

Abstract

A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. Three-dimensional computed tomography images clearly showed a suboccipital cranial cleft extending to the foramen magnum and hypogenesis of the left temporal bone. The patient died of heart failure due to ventricular septal defect at age 5 months.

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Year:  2002        PMID： 12206491     DOI： 10.2176/nmc.42.354

Source DB:  PubMed          Journal:  Neurol Med Chir (Tokyo)        ISSN： 0470-8105            Impact factor:   1.742


  3 in total

1.  Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.

Authors:  Gabriella D'Angelo; Lucia Marseglia; Salvatore Aversa; Sara Manti; Caterina Cuppari; Mariaconcetta Cutrupi; Carmelo Salpietro; Eloisa Gitto
Journal:  Case Rep Pediatr       Date:  2017-09-12

Review 2.  Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.

Authors:  Nils Hansen-Algenstaedt; Melanie Liem; Salah Khalifah; Alf Giese; Angelika Gutenberg
Journal:  J Am Acad Orthop Surg Glob Res Rev       Date:  2019-07-30

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

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  3 in total

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