open access

Vol 81, No 1 (2010)
ARTICLES
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Thanatoforic dysplasia – case report

Marek Pietryga, Rafał Iciek, Maciej Brązert, Ewa Wender-Ożegowska, Jacek Brązert
Ginekol Pol 2010;81(1).

open access

Vol 81, No 1 (2010)
ARTICLES

Abstract

Summary The case report presents a prenatal diagnosis of a fetus with thanatoforic dysplasia. Characteristic features in this syndrome are: extremely short limbs with curved thigh bones, narrow chest, enlarged abdomen, prominent forehead, dysmorphic face, macrocephaly, polihydramnion. The malformation results from the mutation in fibroblast growth factor receptor gene (FGFR-3) which is located in chromosome 4. TD is considered to be an autosomal dominant but most cases are caused by new mutations in the FGFR-3 gene. The prognosis in this malformation is extremely poor. The article presents ultrasound and additional investigations which might be useful in differential diagnosis.

Abstract

Summary The case report presents a prenatal diagnosis of a fetus with thanatoforic dysplasia. Characteristic features in this syndrome are: extremely short limbs with curved thigh bones, narrow chest, enlarged abdomen, prominent forehead, dysmorphic face, macrocephaly, polihydramnion. The malformation results from the mutation in fibroblast growth factor receptor gene (FGFR-3) which is located in chromosome 4. TD is considered to be an autosomal dominant but most cases are caused by new mutations in the FGFR-3 gene. The prognosis in this malformation is extremely poor. The article presents ultrasound and additional investigations which might be useful in differential diagnosis.
Get Citation

Keywords

Thanatophoric Dysplasia, Mutation, Polyhydramnios

About this article
Title

Thanatoforic dysplasia – case report

Journal

Ginekologia Polska

Issue

Vol 81, No 1 (2010)

Bibliographic record

Ginekol Pol 2010;81(1).

Keywords

Thanatophoric Dysplasia
Mutation
Polyhydramnios

Authors

Marek Pietryga
Rafał Iciek
Maciej Brązert
Ewa Wender-Ożegowska
Jacek Brązert

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