Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome

► Hajdu-Cheney syndrome is characterised by craniofacial changes, dental anomalies, short stature, acro-osteolysis and generalised osteoporosis. ► Truncating mutations in the last exon of NOTCH2, a protein-coding gene, are responsible for the syndrome. ► Confirmation of the diagnosis by genetic analysis should be the gold standard, especially when differential diagnosis is difficult.