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

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 observed. T...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Giambrone, Clara, Antona, Vincenzo, Cardella, Francesca, Carta, Maurizio, Cimador, Marcello, Corsello, Giovanni, Giuffrè, Mario, Insinga, Vincenzo, Maggio, Maria Cristina, Pensabene, Marco, Schierz, Ingrid Anne Mandy, Piro, Ettore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461219/
https://www.ncbi.nlm.nih.gov/pubmed/36076277
http://dx.doi.org/10.1186/s13052-022-01365-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461219/
https://www.ncbi.nlm.nih.gov/pubmed/36076277
http://dx.doi.org/10.1186/s13052-022-01365-9

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