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CASE REPORT
Year : 2016  |  Volume : 2  |  Issue : 1  |  Page : 53-56

Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis


1 Department of Pathology, Medical College, Cuttack, Odisha, India
2 Department of O and G, S.C.B. Medical College, Cuttack, Odisha, India

Correspondence Address:
Asaranti Kar
Department of Pathology, S.C.B. Medical College, Qrs. No. JO 1, S.C.B. Medical College Campus, Cuttack - 753 007, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2349-5014.165708

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Meckel-Gruber syndrome (MGS) is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.


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