RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164077819
T1 Maroteaux Cohen-Solal Bonaventure Syndrome
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=1164077819
RD 2024/04/16
AB Severe  congenital  genetic  disease  characterized  by  undermineralization  of  skull  and  bones,  thin  ribs,  thoracic  collapse,  multiple  fractures,  short  stature,  and  prenatal  onset.  Normal  facies  accompany  this  disorder.  Clinically,  the  patient  present  numerous  pathological  bone  fractures  like  those  affected  with  the  lethal  form  of  osteogenesis  imperfecta,  but  the  former  can  be  differentiated  by  a  thin-bone  group  of  lethal  dysplasias.