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 observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2).

Case presentation

We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and

SUBMITTER: Serra G 

PROVIDER: S-EPMC9461219 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature