DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20182589
Published: 2018-06-22

A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

Meenakshi S. Kushwah, Ajay Gaur

Abstract


Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.


Keywords


Flexion finger deformity, Intellectual disability, Rocker-bottom feet, Trisomy 18

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References


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