Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient
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 a...
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Veröffentlicht in: | European archives of paediatric dentistry 2009-11, Vol.10 (Suppl 1), p.35-39 |
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Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 1818-6300 1996-9805 |
DOI: | 10.1007/BF03262698 |