Bone Abstracts

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnorm...

Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coa...