IRIS publication 67996176
Case report: Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient
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TY - JOUR - McKenna, GJ; Burke, FM; Mellan, K - 2009 - November - European Archives of Paediatric Dentistry - Case report: Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient - Published - () - 10 - 1 - 35 - 39 - 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. FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups. DA - 2009/11 ER -
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@article{V67996176, = {McKenna, GJ and Burke, FM and Mellan, K}, = {2009}, = {November}, = {European Archives of Paediatric Dentistry}, = {Case report: Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient}, = {Published}, = {()}, = {10}, = {1}, pages = {35--39}, = {{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. FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.}}, source = {IRIS} }
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AUTHORS | McKenna, GJ; Burke, FM; Mellan, K | ||
YEAR | 2009 | ||
MONTH | November | ||
JOURNAL_CODE | European Archives of Paediatric Dentistry | ||
TITLE | Case report: Presentation of lacrimo-auriculo-dento-digital (LADD) syndrome in a young female patient | ||
STATUS | Published | ||
TIMES_CITED | () | ||
SEARCH_KEYWORD | |||
VOLUME | 10 | ||
ISSUE | 1 | ||
START_PAGE | 35 | ||
END_PAGE | 39 | ||
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. FOLLOW-UP: 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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