Congenital Anomalies

Genetics

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Data 2fimages 2fgiphoqqosiommfakutir 190126 s0 afridi maham congenital anomalies intro
05:25
Congenital Anomalies
Data 2fimages 2fa6voehadq7kuzrjgxhwg 190126 s1 afridi maham types
19:01
Types
Data 2fimages 2fsdtfhmdjqkc2rmldwzx5 190126 s2 afridi maham patterns
12:05
Patterns
Data 2fimages 2fjz3mxf6at2uwx3ebef5l 190126 s3 afridi maham etiology
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Etiology
Data 2fimages 2fpgwc0rujtrskw4cisqvi 190126 s4 afridi maham evaluation of patients
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Evaluation of Patients

Lecture´s Description

sqadia.com is a solution for medical students where they can get high quality medical video lectures along with PowerPoint presentations by numerous medical specialists. Congenital abnormalities are those irregularities which are present at intrauterine life and can therefore be detected at birth or at sometime later in life. This broad category of anomalies has four chief types which include malformations, deformations, disruptions and dysplasias. However, there are three major patterns. Syndromes, associations and sequences form a part of the category. A range of etiologic factors are attributed to these variances. Severity of each condition varies therefore, it is necessary to diagnose and evaluate the patient for the particular type present.

Types

The lecture congenital anomalies made by following the medical book “Medical Genetics: An Integrated Approach'' for MBBS students also focuses on the types of congenital anomalies. There are various types. According to the pathogenic mechanisms, these have been categorized under four major heads. One of these are the malformations in which tissue manufacture did not correctly take place. Malformations include major and minor types having significant clinical implications and no clinically significant deformities, respectively. Second category of such abnormalities are deformations which are a result of certain maternal and fetal factors. In addition to these, disruptions and dysplasias also fall under congenital aberrations. These result in loss of either loss of cells or whole tissue mass and the presence of abnormal cells leading to carcinogenesis, respectively.

Patterns

For MBBS students, the patterns of congenital anomalies are enlightened comprehensively in medical video lectures of sqadia.com for better understanding. There are three prime patterns of congenital abnormalities viz syndromes, associations and sequences. The former is the pattern of abnormalities (by birth) of more than one organ system with common etiology. Associations, however, manifest by chance without a defined etiology. These include vertebral anomalies, anal atresia and many such medical conditions. The later, sequences, is the multiple anomaly pattern. Robin sequence, also termed as Pierre Robin sequence is an example of sequences.

Etiology

The medical lecture congenital anomalies, in the third segment, focuses on etiology of congenital anomalies. There are a range of etiologic factors which account for congenital irregularities. Dysmorphology is the art and science of discerning the patterns of these anomalies. Amongst etiologic factors, some are chromosomal, single gene, teratogenic and even multifactorial. The basis of a malady ought to be identified primarily. Teratogens are those environmental agents which cause birth defects if mother is exposed to them, during conception. To support the idea, fetal alcohol syndrome has been brought into light. It is a recognizable pattern of malformations observed in utero subjection of fetus to alcohol.

Evaluation of Patients

For the better understanding of medical students, in depth elaboration is given on evaluation of patients. Diagnosis and evaluation of patients suffering from such deformities must be carried out. This can be done by employing history and physical approach. There is a medical condition entitled Potter syndrome in which patient presents with characteristic features. Some of these include hypertelorism, retrognathia, renal and bone abnormalities. Beside this, there is another syndrome termed as CHARGE syndrome which is the acronym of coloboma of eyes constellation, heart anomalies, choanal atresia, retarded growth, genital and ear abnormalities. It occurs owing to a mutation in CHD7 gene.

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