Genetically-determined familial recurrent thanatophoric dysplasia

Anna Lauda-Świeciak; Katarzyna Moszczyńska; Jacek Skórczewski; Grzegorz Ludwikowski; Jarosław Szułczyński; Andrzej Tretyn; Mariusz Dubiel

Vol 81, No 8 (2010)

ARTICLES

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Genetically-determined familial recurrent thanatophoric dysplasia

Anna Lauda-Świeciak, Katarzyna Moszczyńska, Jacek Skórczewski, Grzegorz Ludwikowski, Jarosław Szułczyński, Andrzej Tretyn, Mariusz Dubiel

Ginekol Pol 2010;81(8).

Vol 81, No 8 (2010)

ARTICLES

Abstract

Summary Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.