Revista Brasileira de Saúde Materno Infantil (Nov 2023)

Intrauterine diagnosis and follow-up of a child with Goldenhar Syndrome: case report

  • Victor Fernando da Silva Lima,
  • Bruna Assis Tenório Pinto,
  • Claudia Bem Leite Nelson,
  • Eduarda Medeiros Campos,
  • Lucas Pacheco Gonsioroski,
  • Mariana Rodrigues dos Santos Souza,
  • Rayza Cecília Chaves de Siqueira,
  • José Nivaldo de Araújo Vilarim

DOI
https://doi.org/10.1590/1806-9304202300000429-en
Journal volume & issue
Vol. 23

Abstract

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Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient’s chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.

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