✍ Scribed by Bzd�ch, Vladim�r; Beh�lov�, Darina; ?kodov�, Jozef�na
No coin nor oath required. For personal study only.
The incidence of Smith-Lemli-Opitz syndrome (SLOS, McKusick 270 400) has been estimated to be approximately 1 in 50,000 to 1 in 20,000 births in North Americans [Kelley, 1997;Lowry and Yong, 1980]. However, the incidence greater than 1 in 10,000 in a completely ascertained newborn population in Middle Bohemia (Czech Republic) had been suggested before biochemical testing was available [Kelley, 1997]. Over a period of 1 year (from February 1995 to February 1996), three children with biochemically confirmed SLOS were born in Slovakia (5.5 million inhabitants), the eastern part of former Czechoslovakia. All of these cases, with severe clinical signs, were detected by ultraviolet spectrophotometry of serum lipids. Diagnosis was confirmed biochemically by gas chromatography/ mass spectrometry (GC-MS) analysis of serum sterols.
Three cases of SLOS among 60,000 live births would mean an incidence of 1 in 20,000 in the Slovak population. Moreover, it is supposed that this incidence might be higher (1 in 15,000) because another child with typical clinical findings and marked hypocholesterolemia (enzymatic method) was born during that year. She died early and definitive biochemical diagnosis was not made.
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