title: Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review.
abstract: Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal-dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature.
authors.affiliation: Serviço Especial de Genética do Hospital das Clínicas da UFMG, Belo Horizonte, Brazil.
authors.forename: A P
authors.initials: AP
authors.lastname: Ferreira
authors.forename: R S
authors.initials: RS
authors.lastname: Gomez
authors.forename: W H
authors.initials: WH
authors.lastname: Castro
authors.forename: N S
authors.initials: NS
authors.lastname: Calixto
authors.forename: R A
authors.initials: RA
authors.lastname: Silva
authors.forename: M J
authors.initials: MJ
authors.lastname: Aguiar
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D012469:Salivary Glands / Q000002:abnormalities*; D013577:Syndrome