Case Report on a Rare Case of Goldenhar Syndrome
Goldenhar Syndrome is a rare congenital defect characterized by craniofacial abnormalities associated with vertebral, cardiac, renal, central nervous system and gastrointestinal malformation. We report a case of 15 year old female came with the clinical findings of Goldenhar syndrome. It is a clinic...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-04-01
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| Series: | Delhi Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/DLJO.DLJO_65_23 |
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| Summary: | Goldenhar Syndrome is a rare congenital defect characterized by craniofacial abnormalities associated with vertebral, cardiac, renal, central nervous system and gastrointestinal malformation. We report a case of 15 year old female came with the clinical findings of Goldenhar syndrome. It is a clinical diagnosis with generally no genetic defect as its karyotype is normal. Patient had findings which correlates with the diagnosis of Goldenhar syndrome, i.e Ophthalmic, ENT, and Vertebral deformity present. She was operated for cleft lip when she was 1yr 6 months of age. She is operated for dermoid cyst excision in left eye at present. Being a rare syndrome with multiple defect and multisystem involvement early diagnosis is important as it requires long term commitment for treatment. |
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| ISSN: | 0972-0200 2454-2784 |