[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1].

In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.