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

• Published in: European archives of paediatric dentistry Vol. 10; no. Suppl 1; pp. 35 - 39
• Main Authors: McKenna, G. J., Burke, F. M., Mellan, K.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.11.2009; Springer Nature B.V
• Subjects: Abnormalities; Case Report; Composite materials; Congenital anomalies; Dentistry; Growth factors; Health services; Kinases; Medicine; Mutation; Tyrosine; digital; genetic; LADD syndrome; Lacrimo-auriculo-dento-digital
• ISSN: 1818-6300; 1996-9805
• DOI: 10.1007/BF03262698

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.