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Goldenhar syndrome with skin tags on the chest wall
- 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
- Subjects :
- Skin tags
Pathology
medicine.medical_specialty
business.industry
Epibulber dermoid tumor
Goldenhar syndrome
Anatomy
Vertebral anomalies
medicine.disease
Spinal column
Preauricular skin tag
Hemifacial microsomia
Oculo–Auriculo–Vertebral Dysplasia
Etiology
Medicine
Hemifacial Microsomia
Genetics(clinical)
business
Genetics (clinical)
Rare disease
Subjects
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