Literature DB >> 3631024

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

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.

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Year:  1987        PMID: 3631024     DOI: 10.1001/archpedi.1987.04460080081033

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  2 in total

1.  Genetic variations in the ADAMTS12 gene are associated with schizophrenia in Puerto Rican patients of Spanish descent.

Authors:  Irina N Bespalova; Gary W Angelo; Ben P Ritter; Jason Hunter; Maria L Reyes-Rabanillo; Larry J Siever; Jeremy M Silverman
Journal:  Neuromolecular Med       Date:  2012-02-10       Impact factor: 3.843

2.  Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Authors:  Turgut Tukel; Drazen Šošić; Lihadh I Al-Gazali; Mónica Erazo; Jose Casasnovas; Hector L Franco; James A Richardson; Eric N Olson; Carmen L Cadilla; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

  2 in total

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