Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade

Abstract

Cri Du Chat Syndrome (SCDC) is a genetic syndrome that must be recognized and diagnosed as soon as possible for early follow-up and multidisciplinary intervention. We describe the case of a female newborn who was suspected at SCDC at delivery room due to high-pitched crying and facial asymmetry. We also describe the investigation until the final diagnosis and the clinical evolution up to nine months of age of the child. After the diagnosis was confirmed, our pacient received hospital discharge with follow-up of multidisciplinary team in order to reduce development impairments.

Keywords

• cri-du-chat syndrome
• chromosome deletion
• microcephaly