Clinical features of osteogenesis imperfecta in Taiwan.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) (MIM 166200 , 166210 , 259420 and 166220 ) is a congenital disorder characterized by increased bone fragility and low bone mass . Information regarding the clinical features of this genetic disorder is lacking in Taiwan . This study aimed to characterize the clinical features of OI patients in Taiwan to establish a practical correlation for distinguishing different clinical subtypes of the disorder .A review of medical records identified 48 patients with OI (33 female and 15 male ; age range , 2 months to 53 years ) from January 1996 to June 2008 . Diagnosis and classification , using the classification system outlined by Sillence et al , were based on clinical and radiological characteristics . We also analyzed the clinical presentation , physical examination and bone mineral density (BMD ) among the different subtypes of OI .Retrospective analysis of the medical records revealed that 48 OI patients could be classified into types I (n = 19 ), III (n = 10 ), and IV (n = 19 ). There were statistically significant differences between these three types in terms of height , weight , BMD , dentinogenesis imperfecta , bone deformity , scoliosis , walking ability , annual fracture rate , and family history . However , no significant differences were noted for blue sclera (p = 0 .075 ) and hearing loss (p = 0 .832 ).Nine of the 11 clinical features examined---height , weight , BMD , dentinogenesis imperfecta , bone deformity , scoliosis , walking ability , fracture rate , and family history---were significantly different among the three types of OI patients . This finding may be of help in evaluating patients and establishing their prognosis .

Diseases
Validation

Diseases presenting "blue sclera" symptom

dentinogenesis imperfecta

This symptom has already been validated