نتایج جستجو برای: microphthalmia associated
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We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but...
Holoprosencephaly (HPE) is a rare congenital brain malformation associated with multiple midline facial defects. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. HPE is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. In this study,...
We report a case of an isolated para-aortic retroperitoneal renal cell carcinoma (RCC) in the absence primary cancer kidney. Single reports literature have described extra-renal RCC different locations with no evidence tumor. present initial presentation, diagnostic imaging, surgical treatment, and pathologic evaluation. Immunohistochemistry demonstrated positivity for TFE3 TFEB, both which are...
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