RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164079479
T1 Mulibrey Nanism 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=1164079479
RD 2024/04/18
AB Mulibrey  is  an  acronym  that  stands  for  MUscle,  LIver,  BRain,  and  EYe.  It  is  an  extremely  rare  inherited  disorder  characterized  by  the  presence  of  dwarfism  and  distinctive  abnormalities  of  the  muscles,  liver,  brain,  and  eyes.  Characteristic  symptoms  include  low  birth  weight,  short  stature,  muscle  hypotonia,  hepatomegaly,  and  hydrocephalus.  Infants  typically  have  yellow  discolorations  in  their  eyes,  amblyopia,  and  choriocapillaris  hypoplasia.  A  serious  complication  is  the  presence  of  constrictive  pericarditis  in  infancy.  Pulmonary  effusion  and  ascites  are  present.