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

Research output: Contribution to journalArticle

16 Citations (Scopus)

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) 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.

Original languageEnglish (US)
Pages (from-to)895-897
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume141
Issue number8
DOIs
StatePublished - 1987

Fingerprint

Nose
Siblings
Eyelashes
Eyebrows
Skin Aging
Puerto Rico
Growth and Development
Surgical Instruments
Cicatrix
Parents
Skin
Facial ectodermal dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome. / Marion, Robert W.; Chitayat, David; Hutcheon, R. Gordon; Goldberg, Rosalie; Shprintzen, Robert J.; Cohen, M. Michael.

In: American Journal of Diseases of Children, Vol. 141, No. 8, 1987, p. 895-897.

Research output: Contribution to journalArticle

Marion, Robert W. ; Chitayat, David ; Hutcheon, R. Gordon ; Goldberg, Rosalie ; Shprintzen, Robert J. ; Cohen, M. Michael. / Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome. In: American Journal of Diseases of Children. 1987 ; Vol. 141, No. 8. pp. 895-897.
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