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Goldenhar syndrome with skin tags on the chest wall

Authors :
Sally Zahra
Rabah M. Shawky
Source :
Egyptian Journal of Medical Human Genetics; Vol 12, No 2 (2011); 217-220
Publication Year :
2011
Publisher :
Elsevier BV, 2011.

Abstract

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.Keywords: Hemifacial Microsomia; Oculo–Auriculo–Vertebral Dysplasia; Epibulber dermoid tumor; Goldenhar syndrome

Details

ISSN :
11108630
Volume :
12
Issue :
2
Database :
OpenAIRE
Journal :
Egyptian Journal of Medical Human Genetics
Accession number :
edsair.doi.dedup.....8f18120df5fe2bc272570b435f8f5528
Full Text :
https://doi.org/10.1016/j.ejmhg.2011.06.001