Pregnancy outcomes in women with osteogenesis imperfecta.

OBJECTIVE: To assess the relationship between osteogenesis imperfecta (OI) type, mode of delivery and outcomes as self-reported by women in the International Osteogenesis Imperfecta (OI) Registry. METHODS: A cross-sectional study using data from 274 women with OI who reported their experience with pregnancy practices, including mode of delivery, number of children, genetic counseling, assisted conception techniques, mean ages at menarche and at menopause, and pregnancy complications. Chi-square analyses were performed to compare pregnancy outcomes, number of children and OI type. Prevalence ratios and 95% confidence intervals were obtained to quantify exposure-outcome relationships. RESULTS: The most common mode of delivery was the sole use of cesarean section (C-section) reported by 55% of the participants. Approximately two-thirds had at least two children. Twenty-nine percent (n = 80) reported pregnancy complications. There was a significant relationship between the mode of delivery and OI type (p < 0.001), genetic counseling (p = 0.010), and number of children (p < 0.0001). There was neither evidence of an association between pregnancy complications and number of children (p = 0.16), OI type (p = 0.27), nor mode of delivery (p = 0.11). CONCLUSIONS: These findings suggested that clinical OI type, pre-natal genetic counseling, and number of children were strong predictors for choosing the mode of delivery. Severity of OI, multiparity, and vaginal delivery were not associated with increased pregnancy complications in this cohort of women with OI.

Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta.

BACKGROUND: Osteogenesis Imperfecta (OI) is an heritable systemic disorder of connective tissue due to different sequence variants in genes affecting both the synthesis of type I collagen and osteoblast function. Dominant and recessive inheritance is recognized. Approximately 90% of the OI cases are due to mutations in COL1A1/A2 genes. We clinically and radiologically describes an adult male with type III osteogenesis imperfecta who presents a rare bone dysplasia termed bulbous epiphyseal deformity in association with popcorn calcifications. Popcorn calcifications may occur with bulbous epiphyseal deformity or independently. METHODS: Molecular analysis was performed for COL1A1, COL1A2, LEPRE1 and WNT1 genes. RESULTS: An uncommon COL1A1 mutation was identified. Clinical and radiological exams confirmed a distinctive bulbous epiphyseal deformity with popcorn calcifications in distal femurs. We have identified four additional OI patients reported in current literature, whose X-rays show bulbous epiphyseal deformity related to mutations in CR-TAP, LEPRE1 and WNT1 genes. CONCLUSION: The mutation identified here had been previously described twice in OI patients and no previous correlation with bulbous epiphyseal deformity was described. The occurrence of this bone dysplasia focuses attention on alterations in normal growth plate differentiation and the subsequent effect on endochondral bone formation in OI.

Bisphosphonate treatment of children and adults with osteogenesis imperfecta: unanswered questions.

Bisphosphonates are extensively used for treatment of children and adults with osteogenesis imperfecta. Over years, studies have reported the response of BP treatment in individuals with OI but some questions remain still unanswered.