| Literature DB >> 3631024 |
R W Marion, D Chitayat, R G Hutcheon, R Goldberg, R J Shprintzen, M M Cohen.
Abstract
We present the clinical findings in two children with the Setleis bitemporal "forceps marks" syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalies of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.Entities:
Mesh:
Year: 1987 PMID: 3631024 DOI: 10.1001/archpedi.1987.04460080081033
Source DB: PubMed Journal: Am J Dis Child ISSN: 0002-922X