Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. (12th September 2017)

• Record Type: Journal Article
• Authors: D'Angelo, Gabriella; Marseglia, Lucia; Aversa, Salvatore; Manti, Sara; Cuppari, Caterina; Cutrupi, Mariaconcetta; Salpietro, Carmelo; Gitto, Eloisa
• Other Names: Broadbent Roland Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2017(2017)
• Publication Date: 2017-09-12
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2017/4396142
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : 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."