Goldenhar syndrome in an infant with possible familial association: a case report

Pranjali Varshney; Prithi Inamdar; Ankitha Ponathil

doi:10.18203/2349-3291.ijcp20263826

Authors

Pranjali Varshney Department of Pediatrics, Dr. D. Y. Patil Hospital, Nerul, Navi Mumbai, Maharashtra, India
Prithi Inamdar Department of Pediatrics, Dr. D. Y. Patil Hospital, Nerul, Navi Mumbai, Maharashtra, India
Ankitha Ponathil Department of Pediatrics, Dr. D. Y. Patil Hospital, Nerul, Navi Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20263826

Keywords:

Goldenhar syndrome, Oculo-auriculo-vertebral spectrum, Epibulbar dermoid, Anotia, Craniofacial anomalies, Prenatal diagnosis

Abstract

Goldenhar syndrome, is a rare congenital disorder characterized by craniofacial anomalies, auricular malformations, and vertebral defects. We report the case of an 8-month-old female presenting with an ocular mass, which was confirmed to be an epibulbar dermoid. Further evaluation revealed bilateral anotia/microtia and facial asymmetry. Systemic evaluation did not demonstrate vertebral, cardiac, or renal anomalies. Notably, the mother exhibited mild craniofacial anomalies, suggesting a possible familial association. This case highlights the importance of early diagnosis, thorough systemic evaluation, parental counselling, and consideration of recurrence risk and prenatal detection in future pregnancies.

Author Biography

Prithi Inamdar, Department of Pediatrics, Dr. D. Y. Patil Hospital, Nerul, Navi Mumbai, Maharashtra, India

Professor, Department of Pediatrics, Dr. D. Y. Patil Hospital, Nerul, Navi Mumbai

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