Atypical Presentation of Goldenhar Syndrome

Autor: Shubhrakanti Sen, Debmalya Maity, Arnab Koley
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Bengal Journal of Otolaryngology and Head Neck Surgery, Vol 29, Iss 1 (2021)
Druh dokumentu: article
ISSN: 2395-2407
Popis: Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.
Databáze: Directory of Open Access Journals