title: Expanded phenotype and ethnicity in Setleis syndrome.
abstract: Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.
authors.affiliation: Department of Pediatrics, Harbor/UCLA Medical Center, Torrance.
authors.forename: R D
authors.initials: RD
authors.lastname: Clark
authors.forename: M
authors.initials: M
authors.lastname: Golabi
authors.forename: Y
authors.initials: Y
authors.lastname: Lacassie
authors.forename: B
authors.initials: B
authors.lastname: Hall
authors.forename: S
authors.initials: S
authors.lastname: Seto
mesh_terms: D000015:Abnormalities, Multiple / Q000208:ethnology / Q000473:pathology*; D002677:Chile; D002681:China / Q000208:ethnology; D005060:Europe / Q000208:ethnology; D005140:Eyelashes / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011647:Puerto Rico; D012868:Skin Abnormalities; D013577:Syndrome; D014481:United States