[Thanatoforic dysplasia--case report].
The case report presents a prenatal diagnosis of a fetus with thanatophoric 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.
Pietryga
Marek
M
Klinika Połoznictwa i Chorób Kobiecych Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu. kpichk@gpsk.am.poznan.pl
Iciek
Rafał
R
Brazert
Maciej
M
Wender-Ozegowska
Ewa
E
Brazert
Jacek
J
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics*; D016216:Ultrasonography, Prenatal / Q000379:methods*
D017468:Receptors, Fibroblast Growth Factor
Dysplazja tanatoforyczna u płodu--opis przypadku.