First presentation of fractures and bone healing in pediatric KBG Syndrome

• DOI: 10.23736/s0394-3410.20.03978-8
• Publication Date: 2021-01-22T14:04:59Z
• Authors: Marco TURATI; Lilia BRAHIM; Julien THEVENON; Brice POREAU; Andrea COSSIO; Giovanni ZATTI; Marco BIGONI; Aurelien COURVOISIER
• Keywords: KBG Syndrome; Bone fractures; Humerus; Child; Mutation;; 0301 basic medicine; 03 medical and health sciences; 3. Good health

KBG Syndrome is a rare syndrome characterized by facial and hand anomalies, postnatal short stature, delayed bone age, intellectual disability and macrodontia. A key role of mutations in ANRKD11 gene was observed not only in central nervous system but also in skeletal development and function. Indeed, a meticulous evaluation of bone metabolism was recommended in KBG Syndrome. We report on a 11-year-old female child affected by KBG Syndrome with a diaphyseal transverse humeral fracture treated surgically and a clavicular fracture treated conservatively. Bone consolidation was observed in both fractures. To the best of our knowledge, no fracture and bone healing were accurately described in KBG patients. Bone healing was observed after surgical treatment of a humeral diaphyseal fracture and after a conservative treatment of a clavicle fracture. These results showed that bone healing was possible also in presence of a mutation of ANKRD11 gene, an important gene in bone metabolism.