TY  - CHAP
M1  - Book, Section
TI  - Skeletal Dysplasias
A1  - Wells, Robert G.
Y1  - 2015
N1  - 
T2  - Diagnostic Imaging of Infants and Children
AB  - Constitutional  errors  of  bone  development  include  dysostoses,  disruptions,  and  skeletal  dysplasias.  The  dysostoses  are  malformations  of  single  bones,  although  multiple  sites  can  be  involved.  These  disorders  usually  are  due  to  genetic  defects  that  predominantly  affect  organogenesis.  Disruptions  are  secondary  malformations  of  bones,  resulting  from  extrinsic  interference  with  the  normal  developmental  process  by  a  toxic  substance,  infection,  or  transiently  expressed  gene  (e.g.,  rubella  embryopathy).  The  skeletal  dysplasias  (osteochondrodysplasias)  are  intrinsic  developmental  disorders  of  chondro-osseous  tissue.  There  are  over  400  recognized  skeletal  dysplasias.  Unlike  the  dysostoses,  the  genetic  defects  of  the  dysplasias  affect  bone  development  in  both  fetal  and  postnatal  life,  and  have  little  or  no  affect  on  organogenesis.  The  dysplasias  consist  of  primary  lesions  in  which  a  genetic  mutation  is  expressed  in  chondro-osseous  tissue  (e.g.,  "classic"  dysplasias  such  as  achondroplasia)  and  secondary  dysplasias  that  are  caused  by  factors  extrinsic  to  the  skeletal  system  (e.g.,  metabolic  disorders).  There  are  also  mixed  disorders  that  have  features  of  a  dysostosis  and  a  dysplasia,  for  example,  cleidocranial  dysostosis  and  nail-patella  syndrome.1–8  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1148952827
ER  -