title: Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.
abstract: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia and aplasia, auricular anomalies and hearing loss, dental defects and caries, and digital anomalies.
  
  
  
  The authors present the cases of 2 unrelated children with enamel defects and history of dry mouth leading to recurrent dental caries. The referring diagnoses were Sjögren disease and hypohidrotic ectodermal dysplasia, respectively. The geneticist suspected LADD syndrome, which was confirmed by means of molecular studies showing mutations of 2 genes: fibroblast growth factor receptor 2 and fibroblast growth factor 10, respectively. Similarly affected relatives indicated an autosomal dominant inheritance. These relatives needed multiple dental rehabilitations during childhood and dentures in adulthood.
  
  
  
  Dry mouth, multiple caries, enamel defects, and abnormal tooth morphology were the reasons for seeking care from dentists. However, clinical evaluation and diagnostic imaging studies helped identify anomalies of the lacrimal and salivary glands, ears, and digits, indicating involvement of different areas of the body, compatible with LADD syndrome. Accordingly, dentists should consider genetic disorders in patients with multiple anomalies. For instance, oculodentodigital syndrome, oral-facial-digital syndrome, and LADD syndrome (among others) may have dental issues as the major clinical manifestation. Accurate identification of a particular syndrome is now commonplace with the use of genetic testing. When a patient has multiple anomalies suggestive of a syndromic condition, appropriate genetic testing can help verify the clinical diagnosis. Keeping genetics in mind helps earlier identification of other affected family members with diagnostic genetic testing and appropriate treatment; the economic advantage is to shorten the diagnostic odyssey and possibly preserve dentition.
authors.forename: M J
authors.initials: MJ
authors.lastname: Hajianpour
authors.forename: Hannah
authors.initials: H
authors.lastname: Bombei
authors.forename: Scott M
authors.initials: SM
authors.lastname: Lieberman
authors.forename: Rachael
authors.initials: R
authors.lastname: Revell
authors.forename: Rachana
authors.initials: R
authors.lastname: Krishna
authors.forename: Robert
authors.initials: R
authors.lastname: Gregorsok
authors.forename: Simon
authors.initials: S
authors.lastname: Kao
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019140:Dental Care for Children; D017742:Dental Care for Chronically Ill; D003937:Diagnosis, Differential; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D013576:Syndactyly / Q000175:diagnosis* / Q000235:genetics*; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000235:genetics*
keywords: Dental enamel; Sjögren disease; caries; genetics; salivary glands