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European Archives of Paediatric Dentistry

, Volume 10, Supplement 1, pp 35–39 | Cite as

Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient

  • G. J. McKennaEmail author
  • F. M. Burke
  • K. Mellan
Case report

Abstract

BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. FOLLOWUP: The initial restorative phase of treatment has successfully improved the appearance of the patient ’s anterior teeth using direct resin composite build-ups.

Key words

Lacrimo-auriculo-dento-digital LADD syndrome digital genetic 

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Copyright information

© Adis International 2009

Authors and Affiliations

  1. 1.Dept. Restorative Dentistry, School of DentistryUniversity College CorkCorkIreland

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