Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Definition
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.
Also known as Al Gazali-Nair syndrome — per MONDO