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

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

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.

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