Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient

• Published in: European archives of paediatric dentistry Vol. 10 Suppl 1; no. 4; p. 35
• Main Authors: McKenna, G J, Burke, F M, Mellan, K
• Format: Journal Article
• Language: English
• Published: England European Academy of Paediatric Dentistry 01.12.2009
• Subjects: Abnormalities, Multiple - pathology; Birth defects; Care and treatment; Child; Composite Resins; Cuspid - abnormalities; Dental care; Dental hygiene; Dental Materials; Dental Restoration, Permanent; Ear, External - abnormalities; Female; Fibroblast growth factor receptors; Fibroblast growth factors; Fingers - abnormalities; Follow-Up Studies; Gene expression; Genetic aspects; Genetic disorders; Humans; Incisor - abnormalities; Lacrimal Apparatus - abnormalities; Mouth; Syndrome; Tooth Abnormalities - pathology; Tooth diseases; Ireland
• ISSN: 1818-6300
• DOI: 10.1007/BF03262698

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. 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. Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.