Congenital disorders abnormalities

Deficiency of Factor VII is relatively rare and inherited as an autosomal recessive disorder. Deficiency of Factor VII has been reported to be associated with bond abnormal bleeding and thrombotic tendencies. Deep vein thrombosis and pulmonary emboli have been reported in affected individuals. There is a very high frequency of Factor VII deficiency in people with the Dubin-Johnson syndrome, which is a congenital disorder of Hver function. 

Abnormalities of the glycosylation of transferrin occur in the congenital disorders of glycosylation (Chapter 47) and in chronic alcohol abuse. Their detection by, for example, isoelectric focusing is used to help diagnose these conditions. 

Congenital and Genetic Disorders. Abnormalities which are present at birth are said to be congenital. They may result from inherited (genetic) traits, or they may have been induced by environmental factors during either fetal development or the birth process itself. 

Figure 2.1. Electrospray ionization mass spectrum of the glycoprotein transferrin from (a) a normal patient and (b) a patient with a metabolic disorder known as a CGD (congenital disorder of glycosylation). The mass spectrum of the patient with abnormal transferrin displays peaks (marked by stars) that are shifted in mass because the protein is missing an oligosaccharide chain. Mass spectrometric analysis of transferrin currently plays a central role in the clinical screening of patients for CGD. (Reprinted from Refs. 2 and 3, with permission.)...

Down s syndrome A congenital learning disorder arising from a chromosomal abnormality (trisomy 21 - an extra chromosome 21). 

Most cases of mercury poisoning led to handicap, chronic disease, or death. The most frequent symptoms include numbness of limbs, lips and tongue, speech abnormalities, limb function disorders, visual acuity disorders, deafness, and muscular atrophy. Insomnia, hyperactivity, and coma have also been reported. Methylmercury penetrates the blood-brain barrier and causes central nervous system injuries. Mercury also has a teratogenic effect, leading to congenital abnormalities or congenital Minamata disease. 

This group of disorders is characterized by specific defects in the synthesis of cortisol. In pregnancies at high risk for congenital adrenal hyperplasia, fetuses can be protected from genital abnormalities by administration of dexamethasone to the mother. The most common defect is a decrease in or lack of P450c21 (2ll3-hydroxylase) activity. ... 

TS is a multisystem disorder, with characteristic functional and developmental abnormalities in several organ systems including heart, skin, eyes, teeth, immune system and the brain consistent with the ubiquitous expression of the Cav1.2 channel. In a study of seventeen children with TS, it was established that while arrhythmias are the most serious element of the disorder, patients have additional elements including congenital heart disease, dysmorphic facial features, developmental and cognitive delays, immune deficiency, intermittent hypoglycemia and hypothermia and four of the seventeen children studied with TS met the criteria... 

One of the most recent additions to the family of genomic disorders is Kabuki Syndrome, a form of congenital mental retardation with a phenotype that appears to be genetic in etiology. However, little evidence of a genetic abnormality, either chromosomal or Mendelian, had previously been established. Recently a duplication of a 3.5 Mb region was found at... 

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