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Clinical Science

Abstract

Goldenhar Syndrome (GS), also known as oculo-auricular vertebral syndrome, is a congenital defect that occurs in 1 of 5,000 births characterized by the underdevelopment of the ears, soft palate, lip, and mandible due to an anomaly of the first and second branchial arches. Hepatoblastoma is the most common primary liver tumor in the pediatric population. However, it is still considered a rare malignancy because liver cancers only account for 1% of childhood cancers. Most children with hepatoblastoma are asymptomatic, however we describe a 2-year-old girl with Goldenhar Syndrome diagnosed with hepatoblastoma after experiencing abdominal pain and constipation. Findings from the case can further support the argument for an association between Goldenhar Syndrome and hepatoblastoma.

Presentation Type

Poster

Academic Level

Medical Student

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Hepatoblastoma in a patient with Goldenhar Syndrome

Goldenhar Syndrome (GS), also known as oculo-auricular vertebral syndrome, is a congenital defect that occurs in 1 of 5,000 births characterized by the underdevelopment of the ears, soft palate, lip, and mandible due to an anomaly of the first and second branchial arches. Hepatoblastoma is the most common primary liver tumor in the pediatric population. However, it is still considered a rare malignancy because liver cancers only account for 1% of childhood cancers. Most children with hepatoblastoma are asymptomatic, however we describe a 2-year-old girl with Goldenhar Syndrome diagnosed with hepatoblastoma after experiencing abdominal pain and constipation. Findings from the case can further support the argument for an association between Goldenhar Syndrome and hepatoblastoma.

 

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