Common Atrium Associated with Polydactily and Dwarfism in Middle Age Male Patient

Gorani, Daut R.; Kamberi, Lulzim S.; Gorani, Nora S.
June 2011
Medical Archives / Medicinski Arhiv;2011, Vol. 65 Issue 3, p170
Academic Journal
Polydactyly associated with dwarfism may serve as a hint for the presence of additional congenital cardiac abnormalities, thus rousing the demand for a detailed cardiac and genetic investigation. In our case, echocardiography findings led to the diagnosis of most likely Ellis-van Creveld syndrome. We may conclude that prenatal diagnosis of the syndrome can be readily achieved by fetoscopy, fetal echocardiography, and molecular genetic testing by amniocentesis or DNA extracted from chorionic villus samples. Prenatal diagnosis can also be established using mutation analysis of EVC gene from fetal DNA. These cases emphasis the importance of fetal examination for accurate diagnosis of rare syndromes. Education of the general public, especially parents, on congenital anomalies as well as improvement of medical and diagnostic facilities is therefore suggested, if not demanded.


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