RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145458708
T1 Smith-Lemli-Opitz Syndrome
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145458708
RD 2024/04/19
AB Elevated  7-  and  8-dehydrocholesterol  in  serum  is  diagnostic  in  Smith-Lemli-Opitz  (SLO)  syndrome,  which  presents  with  developmental  delay  and  malformationsChondrodysplasia  punctata,  skin  defects,  and  neurologic  symptoms  can  indicate  other  cholesterol  synthetic  defectsAn  autosomal  recessive  disorder  caused  by  a  deficiency  of  the  enzyme  7-dehydrocholesterol  Δ7-reductase