Bone Abstracts

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score –3.2) and femoral neck (T-score –2.4), was referred ...