| Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. | |
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MedLine Citation:
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PMID: 19863897 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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G J McKenna; F M Burke; K Mellan |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry Volume: 10 Suppl 1 ISSN: 1818-6300 ISO Abbreviation: Eur Arch Paediatr Dent Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-10-29 Completed Date: 2010-03-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101277157 Medline TA: Eur Arch Paediatr Dent Country: England |
Other Details:
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Languages: eng Pagination: 35-9 Citation Subset: D; IM |
Affiliation:
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Dept. Restorative Dentistry, School of Dentistry, University College Cork, Cork, Ireland. g.mckenna@ucc.ie |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology Child Composite Resins Cuspid / abnormalities Dental Materials Dental Restoration, Permanent Ear, External / abnormalities* Female Fingers / abnormalities* Follow-Up Studies Humans Incisor / abnormalities Lacrimal Apparatus / abnormalities* Syndrome Tooth Abnormalities / pathology* |
| Chemical | |
Reg. No./Substance:
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0/Composite Resins; 0/Dental Materials |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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