Bone Abstracts June 2015 Volume 4 ISSN 2052-1219 (online) 7th International Conference on Children's Bone Health 27-30 June 2015, Salzburg, Austria published by Online version available at bioscientifica www.bone-abstracts.org Volume 4 Bone Abstracts June 2015 7th International Conference on Children’s Bone health 27–30 June 2015, Salzburg, Austria Abstract book ORGANISERS ICCBH Executive Committee Maria Luisa Bianchi (Milan, Italy) Chair Nick Bishop (Sheffield, UK) Craig B Langman (Chicago, USA) Wolfgang Ho¨gler (Birmingham, UK) Coen Netelenbos (Amsterdam, Netherlands) Programme Organising Committee Wolfgang Ho¨gler (Birmingham, UK) Chair Maria Luisa Bianchi Milan, Italy David Little Sydney, Australia Nick Bishop Sheffield, UK Outi Ma¨kitie Helsinki, Finland Alison Boyce Washington DC, USA Craig Munns Sydney, Australia Nicola Crabtree Birmingham, UK Coen Netelenbos Amsterdam, Netherlands Mairead Kiely Cork, Ireland Gen Nishimura Tokyo, Japan Klaus Klaushofer Vienna, Austria Leanne Ward Ottawa, Canada Craig B Langman Chicago, USA Local Organising Committee Suzanne Bechtold-Dalla Pozza Munich, Germany Marius Kraenzlin Basel, Switzerland Gabriele Ha¨usler Vienna, Austria Christof Land Munich, Germany Wolfgang Ho¨gler Birmingham, UK Barbara Obermayer-Pietsch Graz, Austria Klaus Klaushofer Vienna, Austria Elisabeth Steichen-Gersdorf Innsbruck, Austria ICCBH 2015 SPONSORS AND OTHER SUPPORTERS ICCBH are extremely grateful to the following organisations for their support Premium Sponsor Alexion Platinum Sponsor Ultragenyx Gold Sponsor Amgen (Europe) GmbH Silver Sponsors Internis Pharmaceuticals Sandoz UCB Bronze Sponsors Clementia Kelloggs Novo Nordisk Novotec Medical Stratec Medizintechnik Other Supporters American Society for Bone and Mineral Research (ASBMR) Association of Austrian Social Insurance Companies Austrian Ministry of Health Austrian Society for Bone and Mineral Research DSM Nutritional Products European Calcified Tissue Society International Bone and Mineral Society International Osteoporosis Foundation Pfizer Salzburg Health Insurance The Governor and Mayor of the City of Salzburg Meeting organisation Janet Crompton Conference Organiser Tel: +44 (0)1453 549929 Email: [email protected] Local Agent: Ralph Kerschbaumer S12! studio 12 gmbh Tel: +43 (0) 512 890438 Email: [email protected] Bone Abstracts (2015) Vol 4 ICCBH 2015 CONTENTS ICCBH 2015 27–30 June 2015 INVITED SPEAKER ABSTRACTS . IS1–IS26 ORAL COMMUNICATIONS . OC1–OC22 LATE BREAKING ORAL COMMUNICATION ABSTRACTS ............................. LB1–LB2 ORAL POSTERS . OP1–OP12 POSTER PRESENTATIONS ...............................................P1–P201 INDEX OF AUTHORS Bone Abstracts (2015) Vol 4 ICCBH 2015 Invited Speaker Abstracts and Biographical Notes Bone Abstracts (2015) Vol 4 ICCBH 2015 IS1 Fetal development Yasemin Alanay Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey The human long bones are subject to multiple changes in utero based on a cascade of pathways and cellular signaling mechanisms. In endochondral ossification, cartilage is gradually replaced by bone, beginning with diaphyseal ossification at 8 weeks of gestation. The epiphyses located at both ends between the joint and the primary physis (growth plate) are initially cartilaginous and later develop secondary ossification. The primary physis is responsible for longitudinal growth, and the newest bone forms the metaphysis. The secondary physis provides spherical growth of the epiphyseal ossification center. The diaphyseal diameter enlarges by means of bone deposition from the surrounding periosteum, and the diameter of the physis increases because of bone deposition from the perichondrium. In addition, the ossified components undergo bone marrow transformation. Any disturbances of epimetaphyseal development may result in various skeletal abnormalities. Skeletal patterning begins in the embryo, it is during fetal development that bone formation and mineralization accelerate. The formation of cartilage from stem cells during development is a complex process, which is regulated by both local growth factors and biomechanical cues, and results in the differentiation of chondrocytes into a range of subtypes in specific regions of the tissue. In fetal development cartilage also acts as a precursor scaffold for many bones, and mineralization of this cartilaginous bone precursor occurs through the process of endochondral ossification. In the endochondral formation of bones during fetal development the interplay between cell signalling, growth factors, and biomechanics regulates the formation of load bearing bone, in addition to the joint capsule containing articular cartilage and synovium, generating complex, functional joints from a single precursor anlagen. During embryonic development most of the skeleton begins as a cartilaginous scaffold that is progressively resorbed and replaced by bone. Endochondral bone development continues until the growth plates fuse during puberty. Growth and mineralization of the skeleton are dependent upon the adequate delivery of mineral. During fetal development, the placenta actively transports calcium, magnesium and phosphorus from the maternal circulation. In this talk, the timeline of fetal bone development and regulation will be summarized. Disclosure The author declared no competing interests. DOI: 10.1530/boneabs.4.IS1 Biographical details Dr Yasemin Alanay, MD, PhD is a Pediatric Geneticist, Professor of Pediatrics at Acibadem University School of Medicine, Istanbul. She studied medicine at Hacettepe University, Ankara, completed her residency in Pediatrics in 2002. Completed Pediatric Genetics Fellowship at Hacettepe Ihsan Dogramaci Children’s Hospital. In 2006, she was mentored by Prof. D Rimoin and Prof. D Krakow as a research fellow at the International Skeletal Dysplasia Registry, Cedars Sinai Medical Center, Los Angeles, USA. She later received her PhD in Genetics in 2009 at Hacettepe University. She has participated and led research in the field of genetic diseases of skeleton and craniofacial malformations. Dr Y Alanay has authored over 95 peer-reviewed scientific publications and book chapters. She is a board member of ESHG and editorial boards of the American Journal of Medical Genetics and Clinical Dysmorphology. Her current practice involves clinical genetics, dysmorphology with a special interest in clinical, molecular, and social aspects of skeletal dysplasias. Bone Abstracts (2015) Vol 4 ICCBH 2015 IS2 Bone and osteocyte biology: lessons from human genetic diseases Brendan Lee Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Human skeletal dysplasias consist of over 450 distinct conditions that affect the development and maintenance of bone and cartilage. Broadly they can be characterized by those that affect primarily bone, i.e., the osteodysplasias, vs those that affect cartilage, i.e., the chondrodysplasia. However, the lines dividing these two are increasingly blurred as we recognized them to be a spectrum of osteochondrodysplasias. Importantly, the advent of next generation sequencing has led to increasingly complex genotype–phenotype correlations that now provide unprecedented insight into the important genetic determinants of bone and osteocyte biology. Increasing locus and allelic heterogeneity in association with phenotypic expansion are now informing new mechanistic hypotheses on how the skeletal progenitor cell commits to the osteoblastic lineage and eventually terminally differentiating into the osteocyte. Not surprisingly, we find that this process integrates differential contribution of classical signaling pathways into a rheostat that is highly context and time dependent. Moreover, autocrine, paracrine, and endocrine signaling further integrates cell–cell communication among all of the components within the bone niche. Disclosure Receipt of honoraria/consulting fees: Biomarin. DOI: 10.1530/boneabs.4.IS2 Biographical details Dr Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Interim Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr B Lee co-directs the joint MD Anderson Cancer Center and Baylor College of Medicine Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the Baylor College of Medicine Center for Skeletal Medicine and Biology. He is Founder and Director of the Skeletal Dysplasia Clinic at Texas Children’s Hospital, and of the Medical Student Research Track at Baylor. As a pediatrician and geneticist, Dr B Lee studies structural birth defects and inborn errors of metabolism. Dr B Lee identified the first genetic causes of human skeletal dysplasias that affect the growth and strength of the skeleton. Most recently, he discovered new causes of brittle bone disease in children. In so doing, he is developing new approaches for diagnosing and treating these disorders. Bone Abstracts (2015) Vol 4 ICCBH 2015 IS3 Bone material properties Peter Fratzl Department of Biomaterials, Max Planck Institute of Colloids and Interfaces, Potsdam, Germany Our skeleton needs to carry the body weight and to resist mechanical impacts. This capability or, conversely, bone fragility are controlled by the amount of bone mass, the shape and internal architecture of the bones, as well as by the material of which they are built. Bone material consists of a complex multi-scale arrangement of mineralized collagen fibrils containing also water, proteoglycans as well