Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p142 | (1) | ICCBH2013

A case of geleophysic dysplasia

Piona Claudia , Morandi Grazia , Maines Evelina , Monti Elena , Rodella Giulia , Pepaj Orsiol , Antoniazzi Franco

Background: Geleophysic dysplasia is a rare genetic bone disorder characterized by severe short stature, short hands and feet, characteristic facial features, limited joint mobility, thick skin, progressive cardiac valvular disorders and sometimes upper respiratory stenosis. Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.Case report: One-month-old male baby was initi...