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...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-09-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-022-01365-9 |