RT Book, Section
A1 Bianchi, Diana W.
A1 Crombleholme, Timothy M.
A1 D'Alton, Mary E.
A1 Malone, Fergal D.
SR Print(0)
ID 1106399882
T1 Achondroplasia
T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-144201-5
LK obgyn.mhmedical.com/content.aspx?aid=1106399882
RD 2024/04/20
AB Key  PointsMost  common  form  of  short-limbed  dwarfism.Incidence  is  1  in  26,000  livebirths.Most  consistent  sonographic  finding  is  shortening  of  long  bones  between  21  and  27  weeks.  Additional  findings  include  macrocrania,  frontal  bossing,  trident-shaped  hand.Differential  diagnosis  includes  diastrophic  dysplasia,  achondrogenesis,  Ellis–van  Creveld  syndrome,  hypochondroplasia.Condition  is  due  to  mutations  in  fibroblast  growth  factor  receptor  3  (FGFR3)  gene,  which  is  a  negative  regulator  of  chondrocyte  proliferation.  Mutations  activate  the  receptor  and  cause  gain  of  function.Pregnant  women  affected  by  achondroplasia  need  baseline  pulmonary  function  tests  and  cesarean  section  delivery.Prenatal  diagnosis  can  be  performed  by  sonography  or  by  DNA  analysis.Major  pediatric  complications  include  short  stature,  foramen  magnum  compression,  hydrocephalus,  spinal  stenosis,  restrictive  pulmonary  disease,  hypotonia,  and  recurrent  ear  infections.  IQ  is  normal.Inherited  as  an  autosomal  dominant  condition,  but  80%  of  cases  are  new  mutations  that  always  derive  from  the  father  and  are  associated  with  advanced  paternal  age.