Congenital absence of the lacrimal puncta associated with alacrima and aptyalism.
A 9-year-old girl had no lacrimal puncta, tearing (alacrima), or salivation (aptyalism). The lack of salivation caused florid dental caries. The same condition was found in the proband's father and paternal grandfather. Inheritance of this previously unreported trait appears to be autosomal dominant with variable expressivity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003731:Dental Caries / Q000150:complications / Q000209:etiology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012469:Salivary Glands / Q000002:abnormalities*; D013666:Tears; D014987:Xerostomia / Q000150:complications