RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164075347
T1 Kinky Hair 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=1164075347
RD 2021/01/18
AB It  is  a  genetic  disorder  of  copper  metabolism  that  is  usually  diagnosed  prenatally  which  subsequently  evolves  progressively  to  a  degenerative  mechanisms  involving  several  organs  of  the  body  and  especially  the  brain.  It  is  characterized  by  seizures,  mental  retardation,  stunted  growth,  failure  to  thrive,  unstable  body  temperature,  and  very  unusual  color  and  texture  of  hair.  Caused  by  defective  intestinal  copper  absorption  that  results  in  severe  mental  retardation,  failure  to  thrive,  sparse  hair,  and  osteoporosis.