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This is the first molecular genetic study of TSC in an Indian population. A total of 12 mutations were detected in 24 Indian TSC families in TSC genes. All except one mutation were detected in the TSC2 gene. No variation was found in the promoter regions of either gene. As observed in the western and Japanese populations, the mutations were scattered across the TSC2 gene.

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.

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