RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164075529
T1 Kniest Dysplasia
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164075529
RD 2024/04/25
AB Severe  chondrodysplasia  caused  by  the  defective  formation  of  type  II  collagen  characterized  by  dwarfism,  skeletal  anomalies,  and  often  cleft  palate  and  severe  myopia/blindness.  It  is  characterized  by  the  dumb-bell  shape  of  shortened  long  tubular  bones.  The  short  stature,  enlarged  knees,  and  cleft  palate  are  usually  present  at  birth.  Other  features  may  appear  only  after  2  or  3  years  of  age.