6533b7ddfe1ef96bd1273979

RESEARCH PRODUCT

Facio-auricle-vertebral spectrum (Goldenhar's syndrome): Clinical study of 10 pediatric patients

subject

description

Goldenhar's syndrome - also known as facio-auricolo-vertebral spectrum - is due to a developmental defect of cranio-facial and vertebral structures, and is interpreted as a disruption. Exogenous factors, such as gestational diabetes or ovopathies, have been involved in its aetiology. The pathogenesis of Goldenhar's syndrome seems to be vascular in most of cases, due to the interruption of blood supply to the branchial and vertebral areas during embryonic development. Ten cases of facio-auricolo-vertebral spectrum of different ages are described, in view of a better delineation of its phenotype. This report can contribute to a better knowledge of the phenotype of facio-auricolo-vertebral spectrum. The main features are hemifacial hypoplasia, epibulbar dermoid, external ears abnormalities and vertebral defects. Among the associated abnormalities, urinary tract defects were found with a higher frequency in relation to a common developmental defect.