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

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

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...

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Bibliographic Details
Main Authors: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Italian Journal of Pediatrics
Subjects:
CES
Supernumerary marker chromosome
Neonatal hypoglycemia
Cholestasis
Congenital hypopituitarism
Case report
Online Access:https://doi.org/10.1186/s13052-022-01365-9

Internet

https://doi.org/10.1186/s13052-022-01365-9

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