The SHOX Gene and The Short Stature. Roundtable On Diagnosis and Treatment of Short Stature Due To SHOX Haploinsufficiency: How Genetics, Radiology And Anthropometry Can Help The Pediatrician in The Diagnostic Process Padova

SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure. The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder.