RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145453241
T1 Achondroplasia (Classic Chondrodystrophy)
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145453241
RD 2024/04/23
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