RT Book, Section
A1 Taylor, Juliet
A1 Savarirayan, Ravi
A2 Stevenson, David K.
A2 Cohen, Ronald S.
A2 Sunshine, Philip
SR Print(0)
ID 1109797155
T1 Skeletal Dysplasias
T2 Neonatology: Clinical Practice and Procedures
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071763769
LK accesspediatrics.mhmedical.com/content.aspx?aid=1109797155
RD 2024/04/24
AB Skeletal  dysplasias  are  heritable  disorders  of  bone  caused  by  abnormal  development,  growth,  and  maintenance  of  the  human  skeleton.  They  are  a  heterogeneous  group  of  conditions  that  vary  significantly  in  clinical  severity,  ranging  from  conditions  that  almost  always  cause  death  in  utero  or  soon  after  to  birth,  to  conditions  resulting  in  short  stature  and  chronic  health  complications  that  are  not  generally  life  limiting.  This  chapter  presents  an  approach  to  the  diagnosis  and  management  of  the  skeletal  dysplasias  that  commonly  present  in  the  neonatal  period.