TY - CHAP M1 - Book, Section TI - Achondroplasia (Classic Chondrodystrophy) A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. PY - 2017 T2 - Quick Medical Diagnosis & Treatment Pediatrics AB - Most common form of short-limbed dwarfismUpper arms and thighs are proportionately shorter than the forearms and legsSkeletal dysplasia is suspected based on abnormal stature, disproportion, dysmorphism, or deformityMeasurement of height is an excellent clinical screening toolWhile this disorder has an autosomal dominant transmission pattern, 80% of cases result from a random mutation in the fibroblast growth factor receptor-3 (FGFR3) gene SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/02 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145453241 ER -