title: Complete agenesis of major salivary glands.
abstract: A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.
authors.affiliation: Department of Maxillofacial Surgery, Grenoble Teaching Hospital Nord, Grenoble, France. Electronic address: etienne_berta@hotmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Berta
authors.forename: G
authors.initials: G
authors.lastname: Bettega
authors.forename: P S
authors.initials: PS
authors.lastname: Jouk
authors.forename: G
authors.initials: G
authors.lastname: Billy
authors.forename: F
authors.initials: F
authors.lastname: Nugues
authors.forename: B
authors.initials: B
authors.lastname: Morand
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001707:Biopsy, Needle; D002675:Child, Preschool; D003607:Dacryocystitis / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007765:Lacrimal Apparatus / Q000002:abnormalities* / Q000469:parasitology; D008279:Magnetic Resonance Imaging / Q000379:methods; D010306:Parotid Gland / Q000002:abnormalities* / Q000473:pathology; D035583:Rare Diseases; D013363:Submandibular Gland / Q000002:abnormalities* / Q000473:pathology; D014987:Xerostomia / Q000175:diagnosis / Q000209:etiology
keywords: ALSG (aplasia of lacrimal and salivary glands); LADD (lacrimo-auriculo-dento-digital syndrome); Nasolacrimal duct agenesis; Salivary glands; Xerostomia