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2011, Number 1

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Rev Cub Gen 2011; 5 (1)

A prenatal diagnosis of thanatophoric dysplasia. A case presentation

Rojas BIA, Torres MM, La Rosa LD, Pileta MN, Díaz MME, Hernández GG

Language: Spanish
References: 19
Page:
PDF size: 127.52 Kb.


ABSTRACT

A case of Type I thanatophoric dysplasia, a rare form of lethal osteochondrodysplasia that was prenatally diagnosed in a 26-week old fetus, and selectively aborted is presented. This is the first report of this osteochondrodysplasia in the eastern region of Mayabeque Province. In this case, the interdisciplinary work of several specialists was a decisive factor for the precise diagnosis and genetic counseling.


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