Goldenhar, M. (1952) Associated Malformations of Eye and Ear, Particularly Dermoid Syndrome Epibulbar-Appendices, Congenital Auricular Fistulas and Its Relations with Manibulofacial Dysostosis. Journal of Human Genetics, 1, 243-282.
has been cited by the following article:
- TITLE: Goldenhar Syndrome with Occipital Meningoencephalocele: A Rare Case
- AUTHORS: Mubashshir Ali, Ashish Chugh, Deepak M. Ranade
- KEYWORDS: Goldenhar Syndrome, Limbic Nodule
JOURNAL NAME: Open Journal of Modern Neurosurgery
Dec 16, 2018
- ABSTRACT: A 7-year-old male patient reported in our neurosurgery OPD with chief complaints of swelling in occipital region. The swelling was gradually increasing in size as per history given by patient’s attendant. Antenatal and birth history was uneventful. Developmental milestones were normal. Ear examination showed left sided pre auricular tag. Hearing was normal. Eye examination showed right eye limbal dermoid. Limbs examination showed syndactyly of 5th finger. Cardiovascular, respiratory and oral examination was normal. His height and weight were within normal limit. Chest X-ray was normal. Skeletal survey did not show any vertebral deformities. The karyotype was normal. The MRI brain showed a defect of size 1.3 cm in the occipital region through which cerebellum was seen herniating. The mass was surrounded by hypodense collection with multiple thickened septae within suggestive of CSF collection with thickened meninges. Patient underwent surgery and cystic portion was removed, with preservation of the occipital and cerebellar parenchyma and closure of defect was done. Patient responded well that there were no post operative complications and child was discharged on the 10th postoperative day. Hence, based on clinical and radiographic findings, a diagnosis of Goldenhar syndrome was made.