TY  - CHAP
M1  - Book, Section
TI  - Short-Rib Polydactyly Syndrome
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  PointsRefers  to  a  group  of  rare,  generally  lethal  skeletal  dysplasias  that  have  short  limbs,  short  ribs,  and  polydactyly.  Clinical  overlap  exists  between  the  four  subtypes.Extremely  rare  in  the  general  population.Differential  diagnosis  includes  Ellis–van  Creveld  syndrome,  asphyxiating  thoracic  dystrophy  (Jeune  syndrome),  Meckel–Gruber  syndrome,  and  trisomy  13.All  affected  infants  with  short-rib  polydactyly  syndrome  have  severe  pulmonary  hypoplasia  that  prevents  extrauterine  survival.Chromosomes  are  usually  normal.  Genes  responsible  for  these  conditions  have  not  yet  been  identified.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - obgyn.mhmedical.com/content.aspx?aid=1106400178
ER  -