Síndrome de Arboleda-Tham causado por nova variante genética

• Main Authors: Ivana Cardoso (Author), Margarida Fernandes (Author), Rita Quental (Author), Marta Vila Real (Author), Fátima Santos (Author)
• Format: Book
• Published: Sociedade Brasileira de Pediatria, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report the case of a 10-year-old boy followed since birth due to a polymalformative syndrome, including congenital cardiac disease, microcephaly, failure to thrive, trunk hypotonia and hypertonia of the extremities. With time, chief complaints were developmental delay and absence of expressive la...