SLOS is caused by an inborn error of cholesterol biosynthesis. Affected patients have growth and developmental retardation, congenital anomalies, and a characteristic facial appearance. Prior to discovery of the biochemical defect, diagnosis was based on clinical examination alone. Confirmation of the clinical diagnosis can now be accomplished by demonstration of the characteristic abnormal sterol pattern in plasma or other tissues.

To determine which clinical features were important predictors of the presence of the biochemical abnormality, a data sheet was devised and completed for all patients referred for sterol testing. The data sheet included the following: major organ malformations, “minor” anomalies (polydactyly, cleft palate, cataracts), mental retardation, death, and genital anomalies (Bialer scoring system). In addition, a separate section for facial characteristics (ptosis, anteverted nares, micrognathia, bitemporal narrowing) was included. 114 patients had completed data sheets. 45 of the patients were positive, while 69 were negative on biochemical testing.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account
Continue with Google
Continue with ORCiD