Síndrome de Arboleda-Tham causado por nova variante genética

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...

Full description

Bibliographic Details
Main Authors: Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos
Format: Article
Language:English
Published: Sociedade Brasileira de Pediatria 2023-12-01
Series:Residência Pediátrica
Subjects:
Online Access:https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e761.pdf