This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
To the Editor.—We have not experienced any clinical difficulty in distinguishing the Smith-Lemli-Opitz (S-LO) syndrome phenotype from that of the 4p—syndrome. The craniofacies are usually different. For example in the 4p—syndrome they tend towards hypertelorism and short philtrum whereas in the S-L-O syndrome the tendency is toward ptosis, anteverted nostrils, and relative scaphycephaly. Other differences are emphasized by Mace and Cunningham.
The Smith-Lemli-Opitz syndrome is the more difficult diagnosis to be secure about since there is no laboratory test to "confirm" the clinical diagnosis. We would agree with Mace and Cunningham, that a chromosome study should be considered in any patient for whom there is insecurity about a clinical diagnosis of the S-L-O syndrome. However, we have not as yet evaluated a patient for whom our initial differential diagnosis included both of these disorders.
SMITH DW, GUTHRIE RD. THE 4p—SYNDROME-Reply. Am J Dis Child. 1972;123(3):264. doi:10.1001/archpedi.1972.02110090134027
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: