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April-June 2017 | Vol. 10 | Issue 2 | Page No 11-19
Fetal Dysmorphology: An Indispensable Tool for Synthesis of Perinatal Diagnosis
Shagun Aggarwal
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad & Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for Correspondence Email: shagun.genetics@gmail.com
Dysmorphology is the science (and art!) of studying abnormal form, with special emphasis on subtle findings which provide clue to an underlying diagnosis, mostly a genetic syndrome. It has been the prime tool of the geneticist enabling a syndromic diagnosis on basis of patient’s gestalt with findings like a white forelock, heterochromia iridis, broad thumb, asymmetric crying facies and many other subtle features acting as decisive tools in the genetics clinic. Most individuals with dysmorphism are affected with genetic syndromes, which can be due to chromosomal abnormalities, copy number variations or single gene defects. However, various environmental factors can also lead to dysmorphism, many times mimicking specific genetic syndromes due to involvement of a common biological pathway. A dysmorphological evaluation typically involves a head to toe examination looking for malformations, and minor features showing deviation from the expected norm as per sex, age, family background and ethnicity. This often forms the first and most crucial step in establishing a genetic diagnosis and is subsequently followed by relevant genetic testing for confirmation. In the era of next generation sequencing when the rate of gene discovery has surpassed the clinical recognition of a new genetic syndrome and reverse phenotyping has become commonplace, dysmorphology still remains an important tool in the hands of an experienced geneticist.
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