Síndrome de Arboleda-Tham causado por nova variante genética

• मुख्य लेखकों: Ivana Cardoso (लेखक), Margarida Fernandes (लेखक), Rita Quental (लेखक), Marta Vila Real (लेखक), Fátima Santos (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Sociedade Brasileira de Pediatria, 2023-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...