Meckel-Gruber Syndrome- A Rare Case Report
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 2
Abstract
Introduction: Meckel-Gruber Syndrome was first described by J R Meckelin the year 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly.Any two of these features with a normal karyotype are diagnostic of this syndrome. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at around 15 weeks of gestation based on ultrasonographic findings (encephalocele, polycystic kidneys) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS).The patient was counseled regarding the lethal outcome of MGS. Fortunately, the family agreed for the termination of pregnancy.. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselors should strictly give information about the recurrence risk for the next pregnancies.
Authors and Affiliations
Dr. Apoorva Batra, Dr. Hemant Kumar Mishra
Keywords
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- EP ID EP467573
- DOI 10.9790/0853-1802095255.
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