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Öğe Alagille Syndrome: A review(2013) Callea M.; Bahsi E.; Montanari M.; Ince B.; Mancini G.E.; Yavuz Y.; Radovich F.Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to paucity/absence of interlobular bile ducts. That results in hyperbilirubinemia, hypercholesterolemia, hypertriglyceridemia, fat and liposoluble vitamin malabsorption, pruritus and cutaneous xanthoma. Liver transplantation represents the only curative therapy for the liver pathology. Most hepatic symptoms reverse after liver transplantation. Therapeutical education for oro-dental hygiene is required before and after liver transplantation. The green pigmentation of teeth requires dental rehabilitation. This paper reviews the clinical manifestations of AGS with special regard to the cephalic district, and highlights the necessity for a multidisciplinary approach in order to minimize complications and to ameliorate the quality of life in AGS patients.Öğe Bifid uvula and submucous cleft palate in cornelia de lange syndrome(2011) Callea M.; Montanari M.; Radovich F.; Clarich G.; Yavuz I.Cornelia de Lange syndrome is a rare congenital disease characterized by growth and psychomotor retardation, peculiar facial feature as skeletal and craniofacial deformities, gastrointestinal and cardiac problems and malformation of the upper limb. The prevalence is estimated around 0.6/100000 in the population1. The diagnosis is based on clinical findings and the etiology is still unclear. We present a case of a 17-year-old patient, who came to our attention for dental pain. After an oral examination carried out under general anesthesia the patients presented most of the charactericts described in the literature as micrognathia, high arched palte, delayed aruption, missing of some teeth. The most peculiar findings were the bifid uvula and the submucous cleft palate. The entity of clefting can be determined only with a Magnetic Resonance Imaging which should be carried out under general anesthesia. Caries and periodontal disease were present and the entire dental treatment has been carried out in one sitting without any anestesiologic problems2-5.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.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.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.Öğe Evaluation of root fracture in permanent teeth according to season(Polskie Towarzystwo Stomatologiczne, 2017) Dogan M.S.; Kusdhany L.S.; Maharani D.A.; Callea M.; Yavuz I.Aim of the study. Root fractures which occur as a result of dental trauma may change according to school and holiday periods, and seasons. The aim of our study was to evaluate their incidence as dental trauma based on seasonal variation in children between 8-15 years of age. Material and method. This epidemiological study was performed on 76 children patients who sustained root fracture. Root fractures were diagnosed using cone beam computed tomography and conventional radiography. The incidence of root fracture was examined and compared according to the seasons when patients presented for treatment. The study' data were applied to chi-square test. Results. As a result of our study, it was found that root fractures often occur in winter and in males rather than females. When the distribution of root fractures in boys and girls is examined according to season, it is noted that. © 2017 Polish Dental Association.Öğe HED (Hypohidrotic Ectodermal Dysplasia): A Review(University of Dicle, 2021) Callea M.; Scalisi F.C.; Yavuz I.; Dogan M.S.; Willoughby C.E.; Bashyam M.D.Abstract The ectodermal dysplasias (EDs) are a heterogeneous group of inherited, developmental disorders characterized by alterations in two or more ectodermal structures including the hair, teeth, nails and sweat glands. Currently, more than 200 types of ectodermal dysplasias have been described. Anhidrotic or hypohidrotic ectodermal dysplasia (AED/HED), the most common ED, is characterized by three cardinal features: hypotrichosis, hypohidrosis and hypodontia. We review the genetic and pathogenetic mechanisms of AED/HED and report on the management of clinical manifestations driven by embryology, anatomy and physiology. © 2021, Journal of International Dental and Medical Research, All Rights Reserved.Öğe Hypohydrotic ectodermal dysplasia: A clinical case report(University of Dicle, 2014) Callea M.; Paglia M.; Bahsi E.; di Stazio M.; Ince B.; Fedele G.; Yavuz Y.In times where rare diseases, mostly of genetic offspring, lead research to carry out genetic counselling to better understand the pathogenetic role of the diseases, with chances to develop alternative therapy respect than the multyspecialistic and symptomatic approach, we report on a case of X linked Hypohidrotic Ectodermal Dysplasia, knowing the importance of research, basic to gene therapy, aware of the recent novelties which might drive to an improvement of the symptoms in an alternative way; still as Paediatric Dentists, awaiting for these magic result we carry out an oral rehabilitation reporting step by step the treatment achieving a very good compliance in term of smile, occlusion and aesthetics concerning the patient.Öğe An interdisciplinary approach in a patient with amelogenesis imperfecta: A clinical report and literatüre review(2012) Ulku S.Z.B.; Callea M.; Yavuz I.; Clarich G.; Kaya F.A.; Maglione M.; Kaya S.This clinical report describes an interdisciplinary approach for the coordinated treatment of a 20-year-old woman patient diagnosed with amelogenesis imperfecta. The treatment objective was to restore masticatory function, to reduce dental sensitivity and improve the facial esthetics. A multidisciplinary team approach treatment is recommended, including periodontology, orthodontics, endodontics, and prosthodontics. Prosthodontic treatment included composite laminate veneers and metal-ceramic fixed partial dentures. After treatment the patient was regularly recalled during the 25-months postoperative period. Radiographic and clinical examinations at recall revealed no evidence of complications associated with the restored teeth or their supporting structures.Öğe Syndromic craniosynostosis: A review(University of Dicle, 2016) Cammarata-Scalisi F.; Ozen B.; Chacín J.A.; Yavuz I.; Callea M.Craniosynostosisis a defect of the skull caused by premature fusion of one or more cranial sutures. It may be isolated finding or part of a syndrome and affects 1 in every 2,500 live births.Usually multiple sutures are involved and correspond in at least 20% of the cases. Syndromic craniosynostosis can be associated with various dysmorphic features involving the face, skeleton and nervous system. More than 180 syndromes have been reported with craniosynostosis.The aim of this review is to present the clinical and genetic characteristics of the most common types of syndromiccraniosynostosis.Öğe An unusual case: Neurofibromatosis type 5(2012) Callea M.; Ulku S.Z.B.; Giustini S.; Yavuz I.; Ulku M.M.; Montanari M.; Basaran G.Neurofibromatosis is a disease which includes 5 types in its classification. It has been firstly described by Robert Smith in 1849, but its name comes from the first publication in 1882, in which Von Recklinghausen convinced the scientific and medical world that Neurofibromatosis (NF) was a distinct entity. Cafe-au-lait spots, cutaneous neurofibromas and Lisch nodules are the characteristics of the most common forms. Bilateral acoustic neuromas distinguish the type 2. Type 3, Riccardi type and intestinal type are briefly described. Neurofibromatosis type 5 (NF5) is characterized by cafe-au-lait spots restricted to one area of the body. We report oro-dental phenotype of a patient affected by NF type 5, rare per se and unreported in literature.
