Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review.
A 7-year-old girl had dry mouth and recurrent infections of the lacrimal fistulae with decreased lacrimal secretion. All four puncta were absent, and a Schirmer test showed decreased lacrimal secretion. Salivary gland imaging with sodium pertechnetate 99mTcO4 showed absence of all major salivary glands. Lower lip biopsy disclosed normal structure of the salivary gland. No evidence of abnormal inheritance patterns could be demonstrated.
D000015:Abnormalities, Multiple / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities* / Q000503:physiopathology; D008297:Male; D011877:Radionuclide Imaging; D012469:Salivary Glands / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology