Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome

Robert W. Marion, David Chitayat, R. Gordon Hutcheon, Rosalie Goldberg, Robert J. Shprintzen, M. Michael Cohen

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

22 Citas (Scopus)

Resumen

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) anomalles 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.

Idioma originalEnglish
Páginas (desde-hasta)895-897
Número de páginas3
PublicaciónAmerican Journal of Diseases of Children
Volumen141
N.º8
DOI
EstadoPublished - ago. 1987

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health

Huella

Profundice en los temas de investigación de 'Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome'. En conjunto forman una huella única.

Citar esto

Marion, R. W., Chitayat, D., Hutcheon, R. G., Goldberg, R., Shprintzen, R. J., & Cohen, M. M. (1987). Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome. American Journal of Diseases of Children, 141(8), 895-897. https://doi.org/10.1001/archpedi.1987.04460080081033