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

Hdl Handle:
http://hdl.handle.net/10147/124039
Title:
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.
Authors:
McKenna, G J; Burke, F M; Mellan, K
Affiliation:
Dept. Restorative Dentistry, School of Dentistry, University College Cork, Cork, Ireland. g.mckenna@ucc.ie
Citation:
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. 2009, 10 Suppl 1:35-9 Eur Arch Paediatr Dent
Journal:
European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
Issue Date:
Nov-2009
URI:
http://hdl.handle.net/10147/124039
PubMed ID:
19863897
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.
Item Type:
Article
Language:
en
MeSH:
Abnormalities, Multiple; Child; Composite Resins; Cuspid; Dental Materials; Dental Restoration, Permanent; Ear, External; Female; Fingers; Follow-Up Studies; Humans; Incisor; Lacrimal Apparatus; Syndrome; Tooth Abnormalities
ISSN:
1818-6300

Full metadata record

DC FieldValue Language
dc.contributor.authorMcKenna, G Jen
dc.contributor.authorBurke, F Men
dc.contributor.authorMellan, Ken
dc.date.accessioned2011-03-09T14:40:03Z-
dc.date.available2011-03-09T14:40:03Z-
dc.date.issued2009-11-
dc.identifier.citationCase report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. 2009, 10 Suppl 1:35-9 Eur Arch Paediatr Denten
dc.identifier.issn1818-6300-
dc.identifier.pmid19863897-
dc.identifier.urihttp://hdl.handle.net/10147/124039-
dc.description.abstractBACKGROUND: 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.-
dc.language.isoenen
dc.subject.meshAbnormalities, Multiple-
dc.subject.meshChild-
dc.subject.meshComposite Resins-
dc.subject.meshCuspid-
dc.subject.meshDental Materials-
dc.subject.meshDental Restoration, Permanent-
dc.subject.meshEar, External-
dc.subject.meshFemale-
dc.subject.meshFingers-
dc.subject.meshFollow-Up Studies-
dc.subject.meshHumans-
dc.subject.meshIncisor-
dc.subject.meshLacrimal Apparatus-
dc.subject.meshSyndrome-
dc.subject.meshTooth Abnormalities-
dc.titleCase report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.en
dc.typeArticleen
dc.contributor.departmentDept. Restorative Dentistry, School of Dentistry, University College Cork, Cork, Ireland. g.mckenna@ucc.ieen
dc.identifier.journalEuropean archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistryen
dc.description.provinceMunster-

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