Endocrine Abstracts

Sclerostin is an osteocyte-expressed, extracellular cystine-knot protein that is lacking in patients with sclerosteosis, a rare condition characterized by excessive bone formation. Sclerosteosis patients exhibit very high bone mass (lumbar spine Z scores up to +14) and are anecdotally resistant to bone fracture. Homozygous patients commonly develop symptoms associated with cranial nerve entrapment from excessive bone formation but do not show signs of heterotopic bone formatio...