Agenesis or hypoplasia of major salivary and lacrimal glands.
We described a young man with almost total absence of the parotid glands, hypoplasia of both lacrimal glands, marked hypofunction of both submandibular glands, and left nasolacrimal duct atresia. Lack of tearing, severe dental caries, and conjunctival scarring following chronic xerophthalmia and conjunctivitis serve to alert pediatricians to this autosomal dominant disorder with considerable variation in expressivity.
Milunsky
J M
JM
Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118.
Lee
V W
VW
Siegel
B S
BS
Milunsky
A
A
D000015:Abnormalities, Multiple; D000293:Adolescent; D003731:Dental Caries / Q000150:complications; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D010306:Parotid Gland / Q000002:abnormalities*; D011859:Radiography