Yazar "Vinciguerra A." seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • [ X ]
    Öğe
    A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype
    (Instituto de Investigaciones Clinicas, 2017) Callea M.; Willoughby C.E.; Camarata-Scalisi F.; Giovannoni I.; Vinciguerra A.; Yavuz I.; Di Stazio M.
    Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity. © 2017, Instituto de Investigaciones Clinicas. All rights reserved.
  • [ X ]
    Öğe
    A case of Beckwith- Wiedemann syndrome with peculiar dental findings
    (Ariesdue Srl, 2016) Callea M.; Yavuz I.; Clarich G.; Gunay A.; Vinciguerra A.; Unal M.; Sahbaz C.
    Background Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is a rare genetic disorder characterised by overgrowth, tumor predisposition and congenital malformations. Few systemic manifestations and oral features have been reported so far. Case report We report on a case of BWS, describing all features expanding the knowledge on oro-dentofacial phenotypes, along with a review of the literature.
  • [ X ]
    Öğe
    Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency
    (2011) Callea M.; Faletra F.; Maestro A.; Verzegnassi F.; Rabusin M.; Vinciguerra A.; Radovich F.
    Ectodermal dysplasia is a rare disease which affects at least two ectoderm-derived structures such as hair, nails, skin, sweat glands and teeth. The dentition is altered in number and shape. A 14-year-old male patient with hypodontia, micrognathia, ankylosed teeth and conical shaped teeth was referred for examination, evaluation and treatment. The child exhibited the classic dental phenotype of Ectodermal Dysplasia plus a severe immunodeficiency. Radiographic examination revealed ankylosed primary molars. Ocular findings are reported. Conservative dentistry to reduce the abnormal shape was carried out, and an ultrasound scaling every 4 months, with a strong follow up established. The child fulfilled a good occlusion. Every 3 months the patient has been seen in our department for control of hard and soft tissue in the mouth and after 36 months the dental situation is very well accomplished by patient, family and dental staff. Oral rehabilitation must be carried out at the earliest age possible in order to maintain and correct the oral functions, alignment, good occlusion and a good compliance in smiling and feeding.