Bone Abstracts

Biographical DetailsDr Matthew L Warman is the Harriet M Peabody Professor of Orthopaedic Surgery and Genetics at Harvard Medical School. He attended college at Brown University and Medical School at Cornell University. While in medical school, he performed research with Dr Adele Boskey at The Hospital for Special Surgery. After medical school he trained in Pediatrics at the Children&#146...

I will describe non-cancerous skeletal diseases that occur as a consequence of somatic mutation. I will introduce the work of Drs Mary Lyon, Dorothea Bennett, and Rudolf Happle that provided insights into the mechanism responsible for several genetic, non-heritable diseases. I will then describe the technology and analytic strategies that several laboratories, including my own, employed to identify mutations in patients with Maffucci, Proteus, CLOVES, and Klippel-Trenaunay syn...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Objective: To analyze the effects of statins on bone mineral density (BMD), in participants from a large population-based cohort.Subjects and methods: We studied 2315 subjects (1422 women and 893 men) from the Camargo Cohort, and analyzed the differences in BMD between statin or non-statin users. We also studied the effect of the type of statin, dose, pharmacokinetic properties, and length of treatment, on BMD.Results: Four hundred...

Background: Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. With genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally inherited alleles also manifest resistance to multiple hormones (e.g. PTH, TSH, LH...

Aim: To determine the prevalence of vitamin D deficiency among adolescent Muslim girls attending a school in the UK, which adheres to a conservative dress code.Methods: Fifty-six (31%) out of 180 girls attending a Muslim High School for Girls (median age 13.2years, (IQR 12.5–13.8 years)) took part in this cross-sectional study. Seventy-nine percent (n=45) were of South Asian origin, 3.5% were Black African origin (n=2), 1.8% was Mi...

Background: Atypical femur fractures (AFF) arise in the subtrochanteric and diaphyseal regions. Because of this unique distribution, we hypothesized that patients with AFF demonstrate specific geometrical variations of their femur whereby baseline tensile forces applied to the lateral cortex are higher and might favor the appearance of these rare stress fractures, when exposed to bisphosphonates.Methods: Subjects who sustained AFF, as defined by the ASBM...

Individuals with Down syndrome (DS) have a number of phenotypic features, including a short stature. It has been reported that people with DS have lower areal BMD than the general population, but this may be a biased result due to the smaller size of the skeleton, and it is unclear if individuals with DS have fragile bones. Thus, the objective of this study was to explore the skeleton of DS using two techniques, TBS and calcaneal ultrasound, which are not influenced by bone si...

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...