Microphthalmia and orbital cysts in DiGeorge syndrome
| Autor: | Shannon Beres, Arthika Chandramohan, Douglas R. Fredrick, Laura C. Huang, Andrea L. Kossler, Connie Martin Sears |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Chorioretinal coloboma
Pathology medicine.medical_specialty medicine.diagnostic_test business.industry medicine.disease Microphthalmia eye diseases Ophthalmology DiGeorge syndrome Orbital cyst Pediatrics Perinatology and Child Health Medicine sense organs Eye Finding business Persistent fetal vasculature Chromosomal Deletion Genetic testing |
| Zdroj: | Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:358-360 |
| ISSN: | 1091-8531 |
| DOI: | 10.1016/j.jaapos.2021.06.001 |
| Popis: | We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies. |
| Databáze: | OpenAIRE |
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