open access

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).

open access

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.

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.
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Keywords

family connected, tanatophoric pregnancy, Dysplasia, newborns

About this article
Title

Genetically-determined familial recurrent thanatophoric dysplasia

Journal

Ginekologia Polska

Issue

Vol 81, No 8 (2010)

Bibliographic record

Ginekol Pol 2010;81(8).

Keywords

family connected
tanatophoric pregnancy
Dysplasia
newborns

Authors

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

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