Congenital Anomalies | Patterns | Medical Genetics | USMLE | V-Learning

Congenital anomalies are the structural and functional anomalies which occur in the intrauterine life. These are also termed as the birth defects. Type of congenital anomalies include malformation, deformation, disruptions and dysplasias. However, patterns include syndromes, associations and sequences. Furthermore, CHARGE syndrome alongside teratogens and dysmorphology are elucidated.

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Lecture Duration - 01:10:52
Release Date - January 2019

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TYPES
Congenital anomalies have various type. Malformations include major and minor types having significant clinical implications. 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.

PATTERNS
There are three prime patterns of congenital abnormalities viz syndromes, associations and sequences. 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
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. 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.

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EVALUATION OF PATIENTS
Diagnosis andevaluation 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. Besids, another syndrome called CHARGE syndrome which occurs by mutationinCHD7 gene.
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