hrp0084p2-216 | Bone | ESPE2015
Tunc Selma
, Demir Korcan
, Hazan Filiz
, Kirbiyik Ozgur
, Soyaltin Eren
, Nalbantoglu Ozlem
, Yildiz Melek
, Korkmaz Huseyin Anil
, Ozkan Behzat
Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...