Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report
Rayan Khalid, Imad Fadl‐Elmula · 2026
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Description
Rayan Khalid and Imad Fadl-Elmula report a rare chromosome disorder in a 2026 case report from Sudan. A five-month-old girl had slow growth, unusual facial features, a cataract present at birth, and a hole between the heart's lower chambers. Notably, she lacked the iris defect that gives Cat Eye Syndrome its name.
Gene tests confirmed an extra marker chromosome from chromosome 22, written as 47,XX,+idic(22)(q11.2). The authors call hers the first documented case from Sudan. They say the case widens knowledge of how the syndrome can look and shows the need for gene testing access in African populations.
Catalog record
| CREATOR | Rayan Khalid, Imad Fadl‐Elmula |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16804 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |