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Ophthalmo-acromelic syndrome in an infant
Gizem Ürel-Demir1, Ekim Zihni Taşkıran2, Özlem Akgün-Doğan1
1Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
European Journal of Medical Genetics
|May 9, 2019
Summary
Ophthalmo-acromelic syndrome, a rare genetic disorder, involves eye and skeletal issues. Genetic analysis identified mutations in the SMOC1 gene as the cause.
Area of Science:
- Genetics
- Ophthalmology
- Skeletal Dysplasias
Background:
- Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder.
- It presents with a spectrum of ocular abnormalities, from microphthalmia to anophthalmia.
- Limb malformations include short 5th fingers, metacarpal fusion, and foot oligodactyly.
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