[Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients].

[dentinogenesis imperfecta]

Osteogenesis Imperfecta (OI ) is a genetic disease , in which the main clinical features are increased bone fragility , pathological fractures , blue sclera , dentinogenesis imperfecta and conductive or mixed hearing loss . Clinical variability is wide . Although there is no curative treatment , there are several therapeutic tools capable of improving the course of the condition and patient quality of life .Sixty -five children seen in a Paediatric Hospital during six months in 2007 were evaluated .Thirty -five were type I OI , and thirty were types III -IV . Median age was 7 .8 years (range 1 .9 -19 .2 ); mean length of follow up was 4 .7 years . The majority of children attended regular school for their corresponding age . Mean height was -1 .4 sDS and -5 .64 sDS in types I and III -IV respectively . Nineteen percent of patients were overweight and 11 % were obese . Mean age at first orthopaedic surgery inserting telescopic rods was 6 .5 years . Scoliosis was present in 44 .6 % of patients and was directly related to severity . Bleck 's motor scale showed that 93 % of patients with mild forms and 29 % of severe forms had a sustainable walking ability . A wheelchair was used by 25 % of patients . Family inheritance was confirmed in 65 % of cases .Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition .