Abstract:
Cardiac malformations may be part of congenital syndromes with dissimilar disability. Clinical picture of this pathology meets a particular phenotype characterized by evocation of facial disability, ectodermal dysplasia, abnormalities of various organs and systems, in particular, the skeleton, the urogenital organs, the eyes and the brain. Medical practitioner ability is to make a correct clinical diagnosis, based on the approach to phenotypic expression of the patient is essential and can cause disease prognosis. It was an event rarely seen clinically.
Malformaţiile cardiace pot fi o parte componentă a unor sindroame congenitale plurimalformative. Tabloul clinic al acestui tip de patologie întruneşte un fenotip particular caracterizat de dismorfie evocatoare, displazie ectodermală, anomalii ale diferitor organe şi sisteme, în special, a scheletului, sistemului urogenital, a organelor văzului şi a creierului. Abilitatea medicului practician de a realiza un diagnostic clinic corect, pornind de la abordarea expresiei fenotipice a pacientului, este esenţială şi poate determina prognosticul bolii. A fost prezentat un caz clinic rar întâlnit.
