RT Book, Section
A1 Carey, John C.
A1 Bamshad, Michael J.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6728983
T1 Chapter 179. Genetic Skeletal Disorders
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6728983
RD 2024/04/20
AB Skeletal  dysplasias  are  generalized  disorders  of  bone  and/or  cartilage  that  can  produce  short  stature,  osseous  deformity,  and  functional  disabilities.  More  than  372  different  genetic  disorders  of  the  skeleton  have  been  described  by  the  International  Skeletal  Dysplasia  Society  as  constitutional  diseases  of  bone1;  collectively,  dysplasias  represent  most  of  the  intrinsic  disorders  of  bone  with  the  dysostoses  comprising  the  rest.  The  overall  frequency  of  the  skeletal  dysplasias  is  about  1  in  4000  births,2  making  this  class  of  disorders  about  as  common  as  neurofibromatosis  type  1  or  Turner  syndrome,  conditions  much  better  known  to  the  pediatric  practitioner.