| syndroom van autosomaal recessieve chorioretinopathie, microcefalie en mentale retardatie
syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke beperking
syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke handicap
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| A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. |
