hrp0098p2-189 | Growth and Syndromes | ESPE2024
Wu Jing
, Cao Qiaoyu
, Lu Wei
, Sun Chengjun
, Li Qiuyue
, Ye Rong
, Cheng Ruoqian
, Luo Feihong
, Li Ming
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first Chinese child with bone fractures, a seizure history, and novel recurrent gastrointestinal ma...