Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Encephalocele

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Total: 1

(per page)

PMID (PMCID)
29138704 (5613448)	OTHER
	Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.
	D'Angelo G, Marseglia L, Aversa S, Manti S, Cuppari C, Cutrupi M, Salpietro C, Gitto E. Case Rep Pediatr. 2017;2017:4396142.
	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.