TY  - CHAP
M1  - Book, Section
TI  - Chondrodysplasia Punctata
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  PointsChondrodysplasia  punctata  comprises  a  group  of  genetically  heterogenous  skeletal  dysplasias  characterized  by  small  calcified  densities  in  the  epiphyses  of  the  long  bones.The  rhizomelic  form  (RCDP)  is  more  severe  and  inherited  as  an  autosomal  recessive  condition.  Rhizomelic  chondrodysplasia  punctata  is  a  disorder  of  the  peroxisomes.The  nonrhizomelic  form,  also  known  as  Conradi–Hünermann  syndrome,  can  be  inherited  as  an  autosomal  dominant,  X-linked  recessive  or  dominant  condition.  It  is  generally  milder.Sonographic  findings  include  profound  humeral  and  femoral  shortening  in  rhizomelic  chondrodysplasia  punctata.  Multiple  hyperechoic  foci  (puncta),  nasal  hypoplasia,  midface  depression,  vertebral  anomalies,  and  congenital  heart  defects  are  associated  with  both  RCDP  and  Conradi–Hünermann  syndrome.Differential  diagnosis  includes  skeletal  dysplasias,  autosomal  trisomies,  Zellweger  syndrome,  disorders  of  vitamin  K  metabolism,  warfarin  exposure,  Smith–Lemli–Opitz  syndrome,  and  GM1gangliosidosis.Pregnant  women  carrying  fetuses  with  punctate  calcifications  should  be  referred  to  a  tertiary  center  and  to  a  medical  geneticist.  Chromosome  analysis  is  indicated  to  rule  out  trisomy  and  deletions  of  Xp22.3.There  are  three  types  of  RCDP;  type  1  is  most  common,  caused  by  mutations  in  PEX7.  Molecular  diagnosis  is  possible  for  all  three  types.Prognosis  is  poor  for  RCDP.  Only  50%  of  affected  infants  survive  past  the  age  of  6  years.  All  affected  infants  have  severe  failure  to  thrive,  mental  retardation,  joint  contractures,  and  cataracts.Infants  affected  with  Conradi–Hünermann  syndrome  have  milder  symptoms,  generally  normal  intelligence  and,  with  the  exception  of  the  X-linked  dominant  form  in  males,  a  fairly  normal  lifespan.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - obgyn.mhmedical.com/content.aspx?aid=1106400360
ER  -