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Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen

✍ Scribed by Oostra, Roelof-Jan; Baljet, Bob; Schutgens, Ruud B. H.; Hennekam, Raoul C. M.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 357 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970131)68:3<257::aid-ajmg2>3.0.co;2-j

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✦ Synopsis

The Museum Vrolik collection of human anatomy comprises 360 recently redescribed 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.

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