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Language and Cognitive Features in a Girl with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Ivana Bogavac1,2, Ljiljana Jeličić1,2, Maša Marisavljević1,2
1Cognitive Neuroscience Department, Research and Development Institute "Life Activities Advancement Institute", 11000 Belgrade, Serbia.
Pediatric Reports
|November 24, 2025
Summary
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a rare NR2F-1 gene disorder, impacts cognitive and language development. This case report details a child's profile, highlighting the need for early intervention.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic neurological disorder.
- It is characterized by optic atrophy and intellectual/developmental delay, linked to NR2F-1 gene disruption.
- Limited case studies exist, necessitating further documentation.
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