Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp10 | Clinical case posters | ECTS2013

Hadju–Cheney syndrome: report of two cases in a family

Terroso Georgina , Bernardes Miguel , Aleixo Abelha , Madureira Pedro , Vieira Romana , Fonseca Rita , Goncalves Diana , Costa Lucia

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 ...

ba0001pp12 | Clinical case posters | ECTS2013

Severe osteoporosis associated with Hajdu–Cheney syndrome: follow-up after 2 years of teriparatide therapy

Terroso Georgina , Bernardes Miguel , Aleixo Abelha , Vieira Romana , Madureira Pedro , Fonseca Rita , Goncalves Diana , Costa Lucia

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...