title: Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation.
abstract: Congenital absence or hypoplasia of some or all major salivary or lacrimal glands, nasolacrimal ducts, and puncta is a rare autosomal dominant disorder. Phenotypical expression may show great variability, and the diagnosis may be difficult. Only a few cases have been reported in the literature. This report describes a patient who has all of the essential features suggestive of aplasia of the lacrimal and salivary glands, as well as retardation of growth and development. Although the characteristic features of aplasia of the lacrimal and salivary glands have been described, an association with development and growth retardation has not been reported in the literature.
authors.affiliation: Department of Pediatrics, Gülhane Military Medical Academy & Medical School, Ankara, Turkey.
authors.forename: Faysal
authors.initials: F
authors.lastname: Gok
authors.forename: Fatih Mehmet
authors.initials: FM
authors.lastname: Mutlu
authors.forename: Erkan
authors.initials: E
authors.lastname: Sari
authors.forename: Erkan
authors.initials: E
authors.lastname: Demirkaya
authors.forename: Halil Ibrahim
authors.initials: HI
authors.lastname: Altinsoy
authors.forename: Wollnik
authors.initials: W
authors.lastname: Bernd
mesh_terms: D002675:Child, Preschool; D003318:Corneal Opacity / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000175:diagnosis*; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities; D007766:Lacrimal Apparatus Diseases / Q000151:congenital* / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D012466:Salivary Gland Diseases / Q000151:congenital* / Q000175:diagnosis*; D012469:Salivary Glands / Q000002:abnormalities; D013666:Tears / Q000378:metabolism; D014987:Xerostomia / Q000175:diagnosis