RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164085416
T1 Smith-Lemli-Opitz 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=1164085416
RD 2024/04/24
AB An  autosomal  recessive  polymalformative  syndrome  due  to  the  inability  to  make  cholesterol.  Affects  the  central  nervous  system  (CNS)  (white  matter)  and  characterized  by  growth  retardation,  developmental  delay,  severe  dysphagia,  microcephaly,  micrognathia,  cleft  palate,  cataracts,  ptosis,  polysyndactyly  and  syndactyly  of  the  second  and  third  toes,  and  congenital  heart  defects  (transposition  of  the  great  vessels  is  frequent).  Congestive  heart  failure  and  liver  failure  are  not  uncommon.