RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164077258
T1 Lujan Fryns Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164077258
RD 2024/04/24
AB Inherited  syndrome  with  marfanoid  features  and  X-linked  mental  retardation.  It  is  characterized  by  mild-to-moderate  mental  retardation,  marfanoid  development,  tall  and  thin  stature  with  long  and  slender  limbs.  Other  features  include  arachnodactyly,  joint  hyperextensibility,  narrow  face,  small  chin,  large  testes,  hypotonia,  and  malformations  of  the  brain  and  the  heart.  The  association  with  an  agenesis  or  partial  development  of  the  corpus  callosum  is  present  in  more  than  75%  of  affected  individuals.  The  most  common  heart  defects  include  spontaneous  dilation  of  the  aortic  root  with  acute  aortic  valve  insufficiency,  dissection  of  the  ascending  aorta,  and  to  a  lesser  degree  ventricular  and  atrial  septal  defects.