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  • Title: Meckel-Gruber syndrome: a rare clinical entity.
    Author: Jha T, Bardhan J, Das B, Patra KK, Dhali B, Seth S.
    Journal: J Indian Med Assoc; 2010 Sep; 108(9):611-2. PubMed ID: 21510539.
    Abstract:
    Meckel-Gruber syndrome is an inherited genetic disorder of unknown aetiology. It is an autosomal recessive condition and its incidence is as rare as 1:13,250 to 1:140,000. Some population show an increased incidence of this condition eg, Finnish and Gujarati Indians. Since the time it was first reported by Meckel in 1822 and subsequently by Gruber in 1934, only 200 cases have been reported. Here the case was diagnosed antenatally by an ultrasound and termination of the pregnancy at an early stage was done as per the wishes of the parents. This interesting and rare case of Meckel-Gruber syndrome is reported here.
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