title: Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Oostra
authors.forename: B
authors.initials: B
authors.lastname: Baljet
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D002102:Cadaver; D049672:History, 19th Century; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands; D019082:Smith-Lemli-Opitz Syndrome / Q000266:history* / Q000473:pathology