The Smith-Lemli-Opitz syndrome (SLOS) and the Meckel syndrome (MS) have been regarded as separate autosomal recessive entities. Recently, overlap of these two syndromes has been discussed. A sibship containing a probable new syndrome with features reminiscent of the SLOS and the MS is presented. The literature is reviewed with regard to the frequency of various malformations in these syndromes. Clinical manifestations and cerebellar abnormalities in these sibs are similar to those described in the Joubert syndrome (JS). These three cases may represent a new syndrome with features in common with SLOS, MS, and JS resulting from the same mutant gene, which exhibits considerable pleiotropy.

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The cases of 20 patients, each of whom has a positive lupus erythematosus cell preparation and a negative antinuclear factor test, are presented. The concept of a false-positive lupus erythematosus preparation is suggested. Five common mechanisms causing a false-negative antinuclear factor test are discussed and evaluated. Clinical material from the 20 patients is described and pitfalls in diagnosing systemic lupus erythematosus are reviewed.