A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families

Urzúa, Blanca; Ortega-Pinto, Ana; Farias, Daniela Adorno; Franco, Eugenia; Morales-Bozo, Irene; Moncada, Gustavo; Escobar-Pezoa, Nicolás; Scholz, Ursula; Cifuentes, Víctor

doi:10.3109/00016357.2011.574973

Cited by 11 publications

(11 citation statements)

References 32 publications

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“…The phenotypic and genotypic results described here for Colombian families with ADAI and for other groups and populations described in the literature, particularly in relation to the ENAM gene, suggest that there is a need to consider other candidate genes as possible causes of this disease. Recent studies have stressed the need to search for the gene(s) responsible for the hypocalcified phenotype in ADAI and the FAMH83 gene has been proposed as a candidate for this phenotype (Kim et al , 2008; Urzúa et al , 2012). …”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

et al. 2012

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In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype, two had the hypocalcified phenotype and one had the hypomaturative phenotype. Anterior open bite and mandibular retrognathism were the most frequent skeletal abnormalities in the families with ADAI. No mutations were found. These findings suggest that ADAI in these Colombian families was unrelated to previously described mutations in the ENAM gene. These results also indicate that other regions not included in this investigation, such as the promoter region, introns and other genes should be considered as potential ADAI candidates.

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

et al. 2012

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“…Children with extensive enamel defects such AI usually require an interdisciplinary management team which includes general practitioners, specialist paediatric dentists and orthodontists. The treatment planning is likely to involve complex restorations, orthodontics, exodontia and prosthodontics …”

Section: Developmental Defects Of Enamelmentioning

confidence: 99%

Developmental defects of enamel and dentine: challenges for basic science research and clinical management

Seow

2013

Australian Dental Journal

199

177

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Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated with some types of enamel and dentine defects have been mapped, and many environmental influences, including medical illnesses that can damage enamel and dentine have been identified. Developmental enamel defects may present as enamel hypoplasia or hypomineralization while dentine defects frequently demonstrate aberrant calcifications and abnormalities of the dentine-pulp complex. Clinically, developmental enamel defects often present with problems of discolouration and aesthetics, tooth sensitivity, and susceptibility to caries, wear and erosion. In contrast, dentine defects are a risk for endodontic complications resulting from dentine hypomineralization and pulpal abnormalities. The main goals of managing developmental abnormalities of enamel and dentine are early diagnosis and improvement of appearance and function by preserving the dentition and preventing complications. However, despite major advances in scientific knowledge regarding the causes of enamel and dentine defects, further research is required in order to translate the knowledge gained in the basic sciences research to accurate clinical diagnosis and successful treatment of the defects.Keywords: Enamel, dentine, hypoplasia, hypomineralization.Abbreviations and acronyms: AI = amelogenesis imperfecta; BSP = bone sialoprotein; CPP-ACP = calcium phosphopeptide-amorphous calcium phosphate; DMP1 = dentine matrix protein 1; DSPP = dentine sialophosphoprotein; EB = epidermolysis bullosa; EDI = Enamel Defects Index; FGF = fibroblast growth factor; MEPE = matrix extracellular phosphorylated glycoprotein; MIH = molar-incisor hypomineralization; OPN = osteopontin; TDO = tricho-dento-osseous.

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“…Complete crown coverage is commonly recommended for the definitive restorative procedure in most severe hypocalcified AI cases . Even though significant reduction of tooth structure is required, such restorations protect the dental tissues from further destruction due to brittle enamel structure.…”

Section: Discussionmentioning

confidence: 99%

“…Complete crown coverage is commonly recommended for the definitive restorative procedure in most severe hypocalcified AI cases. 21,22 Even though significant reduction of tooth structure is required, such restorations protect the dental tissues from further destruction due to brittle enamel structure. Adequate tooth preparation and appropriate choice of restorative materials are essential to limit biological complications like loss of pulp vitality and to ensure long-term success.…”

Section: Discussionmentioning

confidence: 99%

Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report

Millet

Duprez

Khoury

et al. 2014

Journal of Prosthodontics

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This manuscript describes an interdisciplinary approach over a period of 8 years combining surgical and prosthodontic treatment of a young patient diagnosed with hypocalcified-type amelogenesis imperfecta and anterior open bite. The treatment procedures included transitional restorations, orthodontic treatment, and maxillofacial surgery with a one-piece Le Fort I osteotomy, bilateral mandibular osteotomy, and genioplasty. The definitive prosthetic rehabilitation consisted of 28 zirconia-based ceramic single crowns restoring both esthetics and function. Photographs and radiographs associated with clinical evaluation were used in the maintenance period. Two-year follow-up revealed satisfactory results and no deterioration in the restorations.

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A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families

Abstract: A multidisciplinary analysis allowed for a diagnosis of hypocalcified amelogenesis imperfecta, Witkop type III, which was unrelated to previously described mutations in the ENAM or MMP-20 genes.

Cited by 11 publications

References 32 publications

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

Developmental defects of enamel and dentine: challenges for basic science research and clinical management

Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report

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