Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.
The Museum Vrolik collection of human anatomy comprises 360 recently re-described specimens with congenital anomalies. The external findings in one of these specimens, originally described by Willem Vrolik (1801-1863) 130 years ago, were suggestive of Smith-Lemli-Opitz (SLO) syndrome. Cholesterol synthesis was analyzed in skin biopsies, obtained from the suspected SLO specimen and a control specimen. The cholesterol levels in the SLO specimen and in the control specimen were in the proportion of 1 to 45. This confirms the diagnosis in this specimen which, to our knowledge, represents the oldest known case of SLO syndrome.
Oostra
R J
RJ
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Baljet
B
B
Schutgens
R B
RB
Hennekam
R C
RC
D002102:Cadaver; D049672:History, 19th Century; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands; D019082:Smith-Lemli-Opitz Syndrome / Q000266:history* / Q000473:pathology