Year: 2025
Type: article
Study design: Case Report
Abstract: Goldenhar syndrome, also known as oculo-auriculo-vertebral (OAV) spectrum, is a rare congenital disorder resulting from abnormal development of the first and second branchial arches, characterized by a constellation of craniofacial, ocular, auricular, and vertebral anomalies, often accompanied by systemic malformations. Early prenatal diagnosis is essential to enable genetic counseling and multidisciplinary management, which can improve functional and psychosocial outcomes. We report a case of prenatal suspicion of Goldenhar syndrome identified at 26 weeks and 6 days of gestation through detailed ultrasonographic evaluation. Findings revealed multiple anomalies, including severe microphthalmia of the left eye, low-set auricle, hypoplastic ductus arteriosus, and tortuosity of the aortic isthmus. Fetal bio-metric measurements corresponded to 20+6 weeks, with an estimated fetal weight of 420 g. No additional abnormalities were noted on second-trimester ultrasound, genetic sonogram, or uterine artery Doppler. This case underscores the critical role of advanced prenatal imaging modalities in the early detection of syndromic malformations associated with Goldenhar Syndrome and highlights the importance of early referral for multidisciplinary evaluation and follow-up.
Authors: Reza Gerami, Farshad Gharebakhshi, Houshyar Maghsoudi, Golmis Abdolmohammadi, Mohsen Ghorbani, Tayyeb Hosseini, Reza Naseri, Parnian Nikraftar
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4415065208