hrp0089p3-p236 | Growth & Syndromes P3 | ESPE2018
Yang Yu
, Huang Hui
, Zhou Bin
Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...