Osteogenesis imperfecta-optic atrophy-retinopathy-developmental delay syndrome
Incidence
Rare condition. Heredity: The syndrome is familial with parental consanguinity indicating transmission as an autosomal recessive trait.
Clinical Characteristics
A syndrome of osteogenesis imperfecta, frontal bossing, wormian bones, congenital blindness, and developmental delay. Major Features Head and neck: Microcephaly, cranial asymmetry, flat occiput, frontal bossing, wormian bones, large fontanels, and early closure of cranial sutures. Eyes: Nystagmus, hypertelorism, blue sclera, optic atrophy, retinal vessel abnormalities, retinal detachment, cloudy cornea, and microphthalmia. Extremities: Hyperextensible joints and multiple fractures. Spine: Kyphosis. Muscles: Hypotonia. Bones and joints: Osteoporosis and osteopenia. Skin appendages: Low frontal hair line. Nervous system: Convulsions, spasticity, paraplegia, abnormal EEG, brain atrophy, and dilated ventricles. Cardiovascular system: Tetralogy of Fallot and heart murmur. Temporal features: Frequent mortality in childhood. Growth and development: Growth, motor, and mental retardation. Behavior and performance: Fetal distress and blindness.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
It is a clinical diagnosis.