A case of recurrent thanatophoric dwarfism

L. Thulasi Devi, Athul R. S.


An interesting case of Recurrent Thanatophoric Dwarfism in a Multigravida; reporting to this hospital in second trimester which was terminated. It was confirmed on anomalies scan and was lethal. Genetic testing of the couple was advised; however, they refused and were lost to follow up. Long-term survivors are rare and require aggressive intervention for complications. In such cases couple should be informed of prognosis and extensively counselled for termination based on complications in long-term survivors as reported in literature. Management should be done after counselling and consultation regarding complications, clinical course, and prognosis of the condition. Due considerations may be given based on the parent’s desire for extreme life-support measures based on availability and affordability for provision of comfort care for the newborn. End of Life Support issues should be considered based on prevailing laws governing the nation.


Congenital malformation, Lethal, Medical genetics, Thanatophoric dwarfism

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