Vol 81, No 1 (2010)

open access

Page views 671
Article views/downloads 15794
Get Citation

Connect on Social Media

Connect on Social Media

Thanatoforic dysplasia – case report

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


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.

Article available in PDF format

View PDF Download PDF file