Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

• Main Authors: Gregorio Serra (Author), Clara Giambrone (Author), Vincenzo Antona (Author), Francesca Cardella (Author), Maurizio Carta (Author), Marcello Cimador (Author), Giovanni Corsello (Author), Mario Giuffrè (Author), Vincenzo Insinga (Author), Maria Cristina Maggio (Author), Marco Pensabene (Author), Ingrid Anne Mandy Schierz (Author), Ettore Piro (Author)
• Format: Book
• Published: BMC, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be obs...