BACKGROUND: Congenital cytomegalovirus (CMV) infection is the leading infectious cause of neurologic disabilities and sensorineural hearing loss in children. Sensorineural hearing loss prevalence in CMV suggests a viral tropism for the inner ear. Vestibular disorders induced by CMV infection are underestimated. This is the largest and most thorough study to assess the incidence of vestibular di...

Congenital platelet pathology refers to disorders of platelet function, the red cells being essential for the coagulation of blood. Congenital platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this study is to summarize current knowledge on the different types of inherited platelet disorders, t...

OBJECTIVE To assess the quality of data on births in the Natural Population Movement (NPM) and congenital metabolic disorders registers with regard to calculation of reproductive and perinatal health indicators. METHODS The following comparisons between registers were made: (1) the total number of births to mothers living in Catalonia and Valencia from 2005 to 2006, (2) the percentage of miss...

Congenital Disorders of Glycosylation (CDG) comprise permanently expanding group of inherited diseases caused by defects of multiple glycosylation pathways which disturb structure of many glycoconjugates classes. The first patients were described by Jaak Jaeken in 1980, in 1984 simple test was implemented to identify new cases. In 1995, fifteen years later, enzymatic defect was revealed as phos...

congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

OBJECTIVE To evaluate trends and associations of hypertensive disorders of pregnancy with stroke risk and test the hypothesis that hypertensive disorders of pregnancy-associated stroke results in higher rates of stroke-related complications than pregnancy-associated stroke without hypertensive disorders. METHODS A cross-sectional study was performed using 81,983,216 pregnancy hospitalizations...

Congenital anomalies pose a huge threat to the affected and susceptible individuals significantly impair their lives. In addition, congenital dental are also serious issue can be associated with certain complications. It has been shown development of these disorders might found as single disorder or part another systemic syndrome. The present literature review provides an overview anomalies. Di...