A 3-month-old male infant with Goldenhar syndrome: A clinical case report from Woldia, Northeast Ethiopia.

SAGE Open Med Case Rep

Department of Pediatrics and Child Health, College of Medicine and Health Sciences, Woldia University, Woldia, Ethiopia.

Published: August 2024

AI Article Synopsis

  • Goldenhar syndrome is a congenital condition affecting structures from the first and second pharyngeal arches, characterized by facial asymmetry and other anomalies.
  • A 3-month-old male with Goldenhar syndrome was diagnosed after being born to a mother receiving antiretroviral therapy and had no family history of birth defects.
  • The infant presented with respiratory issues and severe pneumonia, and he is currently receiving multidisciplinary care for both his immediate health needs and potential management of Goldenhar syndrome.

Article Abstract

Goldenhar syndrome is a multifactorial congenital anomaly that involves structures that develop from the first and second pharyngeal arches. In this report, we present a clinical case of a 3-month-old male infant diagnosed with Goldenhar syndrome, born to a known retro-viral infected mother who was receiving antiretroviral therapy. The baby was brought to the hospital with complaints related to upper respiratory system. On examination, he had typical signs and symptoms of Goldenhar syndrome: an asymmetrical face with small left facial bones, a low-set ear, left anophthalmia, an atretic left ear with only small ear appendages, and a complete cleft lip and palate. His family had no history of birth defects or exposure to the known causes of birth defects. The baby was treated for severe community-acquired pneumonia, the diagnosis for his current presentation to our hospital, and he is now on multidisciplinary follow-up for possible medical and surgical management of the Goldenhar syndrome.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320682PMC
http://dx.doi.org/10.1177/2050313X241271752DOI Listing

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