August 1987

Autosomal Recessive Inheritance in the Setleis Bitemporal 'Forceps Marks' Syndrome

Author Affiliations

From the Division of Genetics, the Department of Pediatrics (Drs Marion and Chitayat), and the Center for Craniofacial Disorders, the Department of Plastic Surgery (Ms Goldberg and Dr Shprintzen), Albert Einstein College of Medicine, Bronx, NY; the Department of Pediatrics, St Joseph Hospital and Medical Center, Paterson, NJ (Dr Hutcheon); and the Department of Oral Biology, Faculty of Dentistry, and the Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia (Dr Cohen). Dr Marion is a Fraad Scholar in Child Health, Albert Einstein College of Medicine. Dr Chitayat is a fellow of the Camp David Institute of Health.; Reprint requests to Albert Einstein College of Medicine, Kennedy Building, 211, 1300 Morris Park Ave, Bronx, NY 10461 (Dr Marion).

Am J Dis Child. 1987;141(8):895-897. doi:10.1001/archpedi.1987.04460080081033

• 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.

(AJDC 1987;141:895-897)