Setleis syndrome: three new cases and a review of the literature.

Abstract

Setleis syndrome is characterized by cutis aplasia or atrophic skin at the temples, which is said to resemble forceps marks. There may also be a coarse facial appearance, anomalies of the eyelashes and eyebrows, and periorbital puffiness. The mouth has a typical appearance with large lips, inverted "V" contour, and downturned overly defined corners. Patients usually have normal intelligence. Here are presented three cases with features of Setleis syndrome. One is an apparently isolated case; the others are father and son. All three have developmental delay. This second family is a further example of autosomal dominant inheritance in Setleis syndrome. These patients also suggest that developmental problems may be a more common manifestation than previously described. Two of the patients are the first described of Pacific Island descent.

• Authors: Julie McGaughran, Salim Aftimos
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 111 Issue 4 Pg. 376-80 (Sep 01 2002) ISSN: 0148-7299 [Print] United States
• PMID: 12210295 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child
• Genes, Dominant
• Humans
• Male