TY  - CHAP
M1  - Book, Section
TI  - Campomelic Dysplasia
A1  - Bianchi, Diana W.
A1  - Crombleholme, Timothy M.
A1  - D'Alton, Mary E.
A1  - Malone, Fergal D.
PY  - 2015
T2  - Fetology: Diagnosis and Management of the Fetal Patient, 2e
AB  - Key  PointsDistinct  skeletal  dysplasia  characterized  by  bowing  of  the  long  bones  of  the  lower  extremity,  phenotypic  sex  reversal,  flat  face,  micrognathia,  cleft  palate,  and  renal  and  cardiac  abnormalities.Incidence  is  0.05  to  1.6  per  10,000  livebirths.Sonographic  findings  include  acute  femoral  angulation,  a  small  bell-shaped  chest,  and  marked  micrognathia.Differential  diagnosis  includes  osteogenesis  imperfecta  type  II,  diastrophic  dysplasia,  Larsen  syndrome,  pelvis–shoulder  dysplasia,  and  acampomelic  campomelic  dysplasia.Fetal  karyotype  is  indicated  to  screen  for  chromosome  17  rearrangements,  which  have  a  better  prognosis  and  to  determine  chromosomal  gender.72%  of  46,  XYfetuses  have  female  genitalia.Delivery  at  a  tertiary  center  is  indicated.95%  of  affected  individuals  die  either  in  the  perinatal  period  or  during  the  first  year  of  life.Long-term  survivors  have  short  stature,  recurrent  apnea  and  respiratory  infections,  progressive  kyphoscoliosis,  and  developmental  delay.Condition  is  caused  by  mutations  in  SOX9,  an  essential  transcription  factor  in  chondrogenesis.Campomelic  dysplasia  is  inherited  as  an  autosomal  dominant.  Rare  reports  of  parent-to-child  transmission  exist.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/23
UR  - obgyn.mhmedical.com/content.aspx?aid=1106400048
ER  -