Searchable abstracts of presentations at key conferences on calcified tissues

ba0006lb20 | (1) | ICCBH2017

COL2A1 c.1609G>A (p.Gly537Ser) a pathogenic variant causing multiple skeletal abnormalities and severe short stature

Vlachopapadopoulou Elpis , Dikaiakou Irene , Manolakos Emmanouil , Panagiotopoulos Ioannis , Michalacos Stefanos

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...