A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis

• Main Authors: Maria Francesca Bedeschi (Author), Beatrice Letizia Crippa (Author), Lorenzo Colombo (Author), Martina Buscemi (Author), Cesare Rossi (Author), Roberta Villa (Author), Silvana Gangi (Author), Odoardo Picciolini (Author), Claudia Cinnante (Author), Viola Giulia Carlina Fergnani (Author), Paola Francesca Ajmone (Author), Elisa Scola (Author), Fabio Triulzi (Author), Fabio Mosca (Author)
• Format: Book
• Published: BMC, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify th...