Case report reveals congenital cataract in an infant with Cat Eye Syndrome, highlighting genetic diagnostic needs.
We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2). This expands CES phenotypic knowledge and underscores the need for accessible genetic diagnostics in underrepresented African populations.
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Khalid et al. (2026) studied this question.
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