Aarskog syndrome: a case report

• Autor(a) principal: Letícia Teixeira
• Data de Publicação: 2024
• Outros Autores: Vitor Lucas Lopes Braga, Ellen Mourão Soares Lopes, Wallace William da Silva Meireles, Kalina Lívia Lopes Carneiro, André Luiz Santos Pessoa, Erlane Marques Ribeiro
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Journal of Health & Biological Sciences
• Texto Completo: https://periodicos.unichristus.edu.br/jhbs/article/view/5116
• topic: síndrome de Aarskog; Scott; mutação genética

Introduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions.