RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164070380
T1 Frydman Cohen Karmon 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=1164070380
RD 2024/04/19
AB Recessive  inherited  syndrome  described  with  blepharophimosis  and  ptosis  with  weakness  of  extraocular  and  frontal  muscles.  Prognathism,  synophrys,  and  thick  eyebrows  added  to  a  typical  facial  appearance  characterize  this  medical  condition.  Additional  findings  included  short  stature,  borderline  head  circumference,  and  toe  syndactyly.  Borderline  mental  retardation  and  anosmia  can  also  be  associated.  The  clinical  features  and  the  mode  of  inheritance  distinguish  this  syndrome  from  other  blepharophimosis  and  ptosis  syndromes.