Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p41 | (1) | ICCBH2013

Management of a new case of neonatal hypocalciuric hypercalcemia related to mutation of the calcium-sensing receptor gene with bone abnormalities

Edouard Thomas , Mouly Celine , Mimoun Emmanuelle , Gennero Isabelle , Magdelaine Corinne , Salles Jean Pierre

Background: A 5-month-old girl was referred to our unit after a systemic screening for hip dislocation by X-rays revealed bilateral femoral bowing. She was the first child of healthy non-consanguineous parents, and her family history was unremarkable. Her parents had a normal physical examination, and normal laboratory findings. At presentation, her height was 64.0 cm (Z-score: 0.0) with a regular height velocity. Weight was 7.4 kg (Z-score: 1.0). On physical...