RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58075954
T1 Metaphyseal Chondrodysplasia, Jansen Type
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58075954
RD 2024/04/19
AB Extremely  rare  progressive  disorder  in  which  portions  of  the  bones  of  the  arms  and  legs  develop  abnormally  with  unusual  cartilage  formations  and  subsequent  abnormal  bulbous  metaphyses  (metaphyseal  chondrodysplasia).  Affected  individuals  exhibit  unusually  short  arms  and  legs  and  short  stature  (short-limbed  dwarfism),  findings  that  typically  become  apparent  during  early  childhood.  Infants  with  Jansen-type  metaphyseal  chondrodysplasia  may  have  characteristic  facial  abnormalities  and  additional  skeletal  malformations.  Hypercalcemia  is  present.