Bone Abstracts

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

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 ...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD). However, studies specifically addressing bone metabolism, BMD and fractures in this disease are still very few.Our ongoing multicenter, prospective study is aimed to identify the characteristics of the DMD boys with a higher risk of bone loss and fractures, through the evaluation of bone tu...

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD), but studies on bone metabolic alterations in this disease are still very few.We are now presenting the preliminary findings of an ongoing multicenter, prospective study aimed to identify the characteristics of DMD boys carrying a higher risk of bone loss and fractures, through the evaluatio...

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 ...

Objectives: Low bone mineral density (BMD) and increased frequency of peripheral and vertebral fractures have been reported in boys with Duchenne muscular dystrophy (DMD), but studies on the determinants of low BMD are still very few. We are currently carrying out a multicenter, prospective study aimed to identify the characteristics of DMD boys with a higher risk of bone loss and fractures.Methods: Forty-two DMD boys (mean age 9.9±3.3 years) underw...

Introduction: Reduced bone mineral density [BMD] and increased fracture risk are common complications in all conditions characterized by severely reduced physical activity and/or requiring long-term glucocorticoid [GC] treatment, including Duchenne Muscular Dystrophy [DMD].Objectives: The RisBo-DMD study (EudraCT 2011-005745-12) is a 24-month prospective multicenter study, aimed at identifying DMD patients at higher risk of fractures and improving the bo...