PURPOSE To determine whether microscopic cortical lamination defects in patients with infantile spasms, not initially identifiable on MR, may be inferred from evolving changes in the adjacent white matter. METHODS Three infants between 3 and 6 months of age presented with infantile spasms. Based on negative metabolic assessment and normal MR findings, they were classified as cryptogenic. Desp...

objective: approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. the incidence of chromosomal abnormalities in those abortions is as high as 50%.a modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. this results from the production of gametes and embryos with unbalanced chrom...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

A case of pseudohypoparathyroidism is described. Unusual features included the apparent absence of a familial history and the long delay in clinical diagnosis. Dental evidence is presented which dates the metabolic abnormality back to at least the age of 2, yet symptoms did not appear until the age of 12 and the correct diagnosis was not made until she was 32. The role of long-term anticonvulsa...

Familial hyperlipidemia (FH) is an inherited metabolic disorder caused by low-density lipoprotein (LDL) receptor abnormality. The delayed clearance of serum LDL results in severe hypercholesterolemia, which leads to the accumulation of LDL-derived cholesterol in skin, tendons, and arterial walls.In homozygous form of the disease, severely atheromatous involvement of the aorta extending to the c...