OSTEOGENESIS IMPERFECTA-LIKE SYNDROME WITH SEVERE MENTAL-RETARDATION AND EXTRAPYRAMIDAL TRACT SIGNS

We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract sig ns and minor facial abnormalities. Generalised osteoporosis with overt ubulation of long bones was similar to that of osteogenesis imperfecta (OI). However, the short tubular bones were distinctively undertubula ted and wormian bones were not found. Based on clinical, laboratory an d neuroradiological examinations, it was less likely that bone fragili ty was attributable to disuse bone atrophy related to her physical han dicap and the neurological abnormalities secondary to brain insult. Sh e is presumed to have a previously undescribed OI-like syndrome.