Endocrine Abstracts

Objective: To determine whether there is a seasonal variation in bone mineral density (BMD) related to exposure to sunlight.Design: A single-centre retrospective analysis of BMD measurements.Participants: Of 10 971 patients who had undergone bone densitometry in the period 2000–2007. 7513 were female and 3458 male.Results: Anonymised data on BMD of lumbar spine was gathered from existing hospital databas...

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...