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SM ISO690:2012 ZMUNCILĂ, Loredana. Particularități clinico-genetice în sindromul franceschetti: prezentare de caz clinic. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 566. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Background. Franceschetti syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities. Transmission is autosomal dominant.The cause of the disease is the mutation of chromosome 5q32-33.2, on the TCOF1 gene Objective of the study. The importance of clinical and genetic approaches to Franceschetti syndrome is to establish an early diagnosis and present the clinical case. Material and Method. This paper comprises analysis of the bibliographic sources regarding children that have Franceschetti syndrome and the synthesis of the clinical case of a 9-year-old boy with FS. Results. A 9-year-old boy applied for a clinical-genetic evaluation at the Mother and Child Institute. Clinical examination: underdevelopment of facial bones and mandibular hypoplasia, macrostomy, the inclination extends below the external angle of the eyelid slit- antimongoloid appearance, nazofrontal angle is obliterated, bilateral malformations of the ears, hearing loss up to 40%, normal intelligence. The diagnosis was established based on clinical criteria, the association of characteristic dysmorphism and transmission deafness. Radiological examination revealed typical changes of the mandible. The audiogram confirmed bilateral transmission deafness. Conclusion. The knowledge of the clinicalgenetic aspects according to the literature contributes to the early diagnosis of FS in children. Identification of the mutation in the FS is at the research stage, but molecular study by the indirect method can contribute to genetic counseling in familial forms. |
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Cuvinte-cheie Franceschetti syndrome (FS), child, hypoplasia, mandible, Sindrom Franceschetti (SF), copil, hipoplazie, mandibulă |
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