Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review.
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.
Ferreira
A P
AP
Serviço Especial de Genética do Hospital das Clínicas da UFMG, Belo Horizonte, Brazil.
Gomez
R S
RS
Castro
W H
WH
Calixto
N S
NS
Silva
R A
RA
Aguiar
M J
MJ
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