An Interesting Case of Meckel-Gruber Syndrome.
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Date
2013-08
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Abstract
Meckel-Gruber syndrome, also known as ‘Dysencephalia splanchnocystica’, is a rare lethal autosomal recessive disorder
consisting of central nervous system malformation- mainly posterior encephalocele (80%), multicystic kidneys (95%) and
polydactyly (75%). Besides the classic triad of neural tube defects, polydactyly and cystic dysplasia of the kidneys, other
abnormalities can occur in association with the syndrome, which may be detected sonographically include micrognathia, cardiac
abnormalities, syndactyly, clinodactyly and clubbed foot. We report a case of a 26-year-old woman with previous LSCS referred
from a private practitioner with abnormal ultrasonographic findings. She was diagnosed to have Meckel-Gruber syndrome.
Woman and her husband were counseled regarding this lethal condition incompatible with life and after proper consent and
information, pregnancy was terminated.
Description
Keywords
Prenatal diagnosis, Meckel-Gruber syndrome, trisomy 13, encephalocele
Citation
Arya Sangeeta, Pandey K, Verma A, Singh R K, Chauhan S. An Interesting Case of Meckel-Gruber Syndrome. Indian Journal of Clinical Practice. 2013 Aug; 24(3): 279.