A CASE OF FAMILIAL BILATERAL ANOPHTHALMOS WITH SYNDACTYLY

Anophthalmos. A Case Report

Sex - Linked Hereditary Bilateral Anophthalmos

rprue anophthalmos is a rare clinical *entity, and the diagnosis can only be made by histologie examination of the orbital contents. Cases with pathologic substantiation of both the intraorbital and the intracranial com¬ ponents of the visual system are still rare.13 We present herein the radiologic and postmortem follow-up in a case of an X-linked recessive form of anophthalmos originally repo...

Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways

This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the opti...

Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

Sandhoff disease in an extreme preterm baby with bilateral syndactyly.

andhoff disease (GM2 gangliosidosis) is much less common than Tay-Sachs disease. Both are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff disease is caused by mutations of the gene encoding the beta sub-unit of hexosaminidase, on chromosome 5. In Tay-Sachs disease, the mutation is in the alpha sub-unit on chromosome 15.1 Since both hexosaminidase A and hexosami...