hrp0092p2-158 | GH and IGFs | ESPE2019
Kim Min-Sun
, Im Minji
, Park Hyojung
, Park Mi Jung
, Kim Shin Hye
, Cho Sung Yoon
, Jin Dong-Kyu
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia with abnormal growth pattern and inadequate pubertal growth spurt. Achondroplasia and HCH have many similar phenotype, however, HCH show the mildest phenotype among FGFR3-associated skeletal dysplasia, and the radiologic findings are usually so subtle. We investigated to evaluate clue for the hypochondroplasia, and clinical and genetic characteristics of eleven Korean patients with HCH. We a...