TY  - CHAP
M1  - Book, Section
TI  - Achondrogenesis
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  PointsSecond  most  common  lethal  short-limb  dysplasia.Incidence  is  1/40,000  to  1/50,000  livebirths.Characterized  by  severe  micromelia,  lack  of  vertebral  ossification,  and  a  large  head  with  relatively  normal  ossification  of  the  calvarium;  also  associated  with  polyhydramnios,  cystic  hygroma,  and  hydrops  fetalis.Type  I  (20%  of  cases)  is  more  severe  and  is  inherited  as  an  autosomal  recessive.  Type  IB  is  caused  by  a  mutation  in  the  diastrophic  dysplasia  sulfate  transporter  (DTDST)  gene.Type  II  (80%  of  cases)  is  caused  by  mutations  in  the  COL2A1  gene,  which  results  in  significantly  decreased  type  II  collagen.  Type  II  is  usually  a  de  novo  dominant  mutation,  with  rare  reports  of  recurrence  due  to  germline  mosaicism.Increased  incidence  of  prematurity  and  stillbirth.  Condition  is  lethal  in  perinatal  period.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - obgyn.mhmedical.com/content.aspx?aid=1106400262
ER  -