TY  - CHAP
M1  - Book, Section
TI  - Ellis–van Creveld syndrome
A1  - Bianchi, Diana W.
A1  - Crombleholme, Timothy M.
A1  - D'Alton, Mary E.
A1  - Malone, Fergal D.
Y1  - 2015
N1  - 
T2  - Fetology: Diagnosis and Management of the Fetal Patient, 2e
AB  - Key  PointsAutosomal  recessive  condition  that  results  in  short-limbed  dwarfism,  polydactyly,  congenital  heart  disease,  oral  frenulae,  defective  teeth,  and  generally  normal  intelligence.Thirty  percent  of  cases  occur  in  consanguineous  families.Differential  diagnosis  includes  Jeune  syndrome  (asphyxiating  thoracic  dystrophy),  short-rib  polydactyly  syndrome,  achondroplasia,  and  Weyers  acrodental  dysostosis.Karyotype  of  affected  individuals  is  usually  normal.Caused  by  genetically  heterogenous  mutations  in  two  genes,  EVC  and  EVC2,  that  are  next  to  each  other  on  chromosome  4p16.Compatible  with  long-term  survival.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - obgyn.mhmedical.com/content.aspx?aid=1106400132
ER  -