Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome

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2021-01-23
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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.