戈登哈综合征患儿宫内诊断及随访1例

Q3 Medicine

Revista Brasileira de Saude Materno Infantil Pub Date : 2023-01-01 DOI:10.1590/1806-9304202300000429-en

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

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引用次数: 0

摘要

摘要简介:goldenhar综合征是一种罕见的影响颅面形态发生的先天性综合征。它是一种复杂的综合征，具有异质的表现，诊断仍然可以在宫内通过形态超声进行。描述:报告1例4岁男性高登哈综合征患者的临床表现、诊断调查和随访情况。讨论:对这些患者的随访仍然是一个挑战，因为它可以影响不同的系统和不同的表现。越早进行诊断，患者通过多学科刺激获得良好预后的机会越大。本文的目的是对医学文献有所贡献，以协助未来病例的诊断和处理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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来源期刊

Revista Brasileira de Saude Materno Infantil Medicine-Obstetrics and Gynecology

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

12 weeks

期刊介绍： The Brazilian Journal of Mother and Child Health is published every three months (March, June, September and December) by Institute of Mother and Child Health, continuing the Revista do IMIP. Aiming at publishing scientific research articles in the field of mother and child health. Contributions should approach different aspects of mother’s health, women’s health and children’s health, covering biomedical, sociocultural and epidemiological determinants.