| Autor: |
Ahmed Hafez Mousa, MBBS, Hussein Omar Taher, MBBS, Fawziah Alzaid Al Sharif, MD, Hala Rafat Zulali, MBBS, Reem Saud Alqufaidi, MBBS, Yasmeen Salah Alsulaiman, MBBS, Raneem Yasser Gazaz, MBBS, Mohammed Fouad Alamer, MBBS, Elsayed Mohamed Mehena, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 18, Iss 3, Pp 1000-1004 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2022.11.085 |
| Popis: |
CODAS syndrome (cerebral, ocular, dental, auricular, skeletal anomalies) is a rare autosomal recessive inherited multisystemic disease that carries an incidence rate of less than 1 in 1,000,000 children worldwide. It has an infancy, neonatal age of onset, characterized by deformities of the central nervous system, eyes, ears, teeth, and skeleton. A 1-year-old female of non-consanguineous parents, first time presented to our pediatrics clinic on November 6, 2021 when she was 4 months of age with developmental delay, as the patient could not support her head and made no eye contact on examination. Microcephaly was observed. She had a positive family history; her sister died at the age of 3 days with microcephaly and diaphragmatic hernia. We recommend that a wider range of centers to get encouraged to report cases of CODAS they might encounter due to the lack of sufficient amounts if solid literature on the topic. To our knowledge, this is the first case to be reported in the literature from Saudi Arabia. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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