This book presents recent advances and international cutting-edge knowledge of rare diseases in pediatric patients, including chromosome abnormalities and syndromes characterized by growth failure, special face features, organ or gonad malformation, abnormal hormone secretion, hereditary metabolic diseases, abnormal integumentary system and immune system and arrhythmia. The epidemiology, genetics, pathogenesis, clinical manifestation, laboratory examination, diagnosis and differential diagnosis, treatment, genetic counselling, prevention and prognosis of each disease were described in details, followed by illustrations of phenotypic characteristics, respectively. Written by pediatrician with wealthy of clinical experience, this book will be a practical reference to pediatrician and endocrinologists, as well as those who are interested in related field.

This book presents recent advances and international cutting-edge knowledge of rare diseases in pediatric patients, including chromosome abnormalities and syndromes characterized by growth failure, special face features, organ or gonad malformation, abnormal hormone secretion, hereditary metabolic diseases, abnormal integumentary system and immune system and arrhythmia. The epidemiology, genetics, pathogenesis, clinical manifestation, laboratory examination, diagnosis and differential diagnosis, treatment, genetic counselling, prevention and prognosis of each disease were described in details, followed by illustrations of phenotypic characteristics, respectively. Written by pediatrician with wealthy of clinical experience, this book will be a practical reference to pediatrician and endocrinologists, as well as those who are interested in related field.