Aplasia cutis congenita is a rare condition characterized by congenital absence of the epidermis, dermis, and subcutaneous tissue. It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined population.
View Article and Find Full Text PDFPyomyositis is an acute bacterial infection that affects striated muscle and is generally accompanied by the formation of an abscess. In most cases, the microorganism involved is Staphylococcus aureus. Clinical findings are characterized by pain, swelling and muscular edema, together with variable general symptoms.
View Article and Find Full Text PDFJarcho Levin syndrome is a congenital disorder characterized by the presence of rib and vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. They present multiple vertebral anomalies at different levels of the spine, including "butterfly vertebrae", hemivertebrae and fused hypoplastic vertebrae.
View Article and Find Full Text PDFIntroduction: Galactosemia is a metabolic disease that is transmitted by autosomal recessive inheritance in which there is an enzymatic deficit that prevents the metabolism of galactose. Three enzymes could be involved, but the lack of galactose-1-phosphate uridyltransferase (GALT) is the most frequent. Incidence is two cases per 100,000 newborn infants.
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