RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164080005
T1 Nail-Patella 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=1164080005
RD 2024/04/18
AB Rare  genetic  disorder  usually  apparent  at  birth  or  during  infancy.  It  is  characterized  by  dysplasia  of  the  fingernails  and  toenails,  aplasia  or  hypoplasia  of  the  patellae,  webbing  of  skin  at  the  elbow(s),  and  abnormal  bilateral  projections  of  the  iliac  superior  crest.  Other  features  include  glaucoma  (open-angle  glaucoma)  and  “cloverleaf-shaped  iris”  (Lester  iris).  Approximately  30  to  40%  of  patients  may  also  develop  nephropathy,  which  is  usually  apparent  during  childhood  or  later  in  life.