Bone Abstracts

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...

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Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

Aim: Evaluate the differences with densitometry after 2-year treatment in patients with breast cancer and LBMD.Materials and methods: A 2 year duration longitudinal study was done in patients diagnosed with breast cancer sent to the Rheumatology Osteoporosis Unit in Hospital d’Ontinyent, who required supplements of calcium and vitamin D+bisphosphonates after a risk fracture study. Socio-demographic data, breast tumor characteristics, risk f...

The childhood obesity is a global epidemic. Some studies with pre-pubertal children reported a positive relationship between fat mass and bone. However, there are no available data on the influence of the nutritional status on parameters of quantitative ultrasound (QUS). The aim of this study was to evaluate the influence of nutritional status in bone mass assessed by QUS of proximal phalanges in girls. The bone mass parameter, amplitude dependent speed sound (AD-SoS) in meter...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

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Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Objectives: The determinants of areal bone mineral density (aBMD) and hip geometry estimates in adolescent athletes are poorly understood. This study aimed to identify the determinants of aBMD and hip geometry estimates in adolescent male athletes.Methods: One hundred twenty one males (13.1±0.1 years) were measured: 41 swimmers, 37 footballers, 29 cyclists and 14 controls. Dual energy X-ray absorptiometry (DXA) measured aBMD at lumbar spine, femoral...