OSTEOPENIA, ABNORMAL DENTITION, HYDROPS-FETALIS AND COMMUNICATING HYDROCEPHALUS

We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he wa s treated by hemofiltration, prolonged ventilation and intravenous fee ding. He had hypertelorism, orbital hypoplasia without proptosis, brac hydactyly, frontal and temporal bossing of the skull, central hypotoni a, communicating hydrocephalus, and severe delay in psychomotor develo pment. Signs of connective tissue disorder included: osteopenia, patho logical fracture, yellow/grey discolored teeth, blue sclerae and easy bruising. Laboratory investigations failed to reveal the cause of feta l hydrops or collagen abnormality His mother and one sib had learning difficulties. Although some of these findings may be due to perinatal factors, the connective tissue abnormalities suggest a genetic syndrom e in the heterogeneous group of osteogenesis imperfecta. This case eit her represents the more severe end of the spectrum of Type IV osteogen esis imperfecta or the mild end of the spectrum of Cole-Carpenter synd rome.