hrp0082p2-d2-299 | Bone (1) | ESPE2014
, Fatma Zohra Bouzidi
, Beauloye Veronique
, Maria Garcia Hoyos
, Zahra Kemali
Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...