Title of article :
Goldenhar syndrome with skin tags on the chest wall
Author/Authors :
Shawky, Rabah M. Ain Shams University - Pediatric department, Genetics Unit, Egypt , Zahra, Sally S. Ain Shams University - Pediatrics Department, Egypt
From page :
217
To page :
220
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–VertebralDysplasia , Epibulber dermoid tumor , Goldenhar syndrome
Journal title :
Egyptian Journal of Medical Human Genetics
Journal title :
Egyptian Journal of Medical Human Genetics
Record number :
2720952
Link To Document :
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