Innocente Natalia,  Pelizzari Mario,  Perez Ricardo,  Ledesma Ricardo,  Giri Cantero Natalia

Final Pr. ID: Poster #: CR-003 (S)

To present a case of a disorder that has an infrequent prenatal diagnosis.
Moebius syndrome is a rare congenital condition with an estimated incidence of 1/100000 births, characterized by an absence or underdevelopment of the facial and abducens nerve nuclei.
In this patient, Moebius syndrome is suspected after completion of a fetal ultrasound in the 23^rd week of gestation. Said ultrasound showed facial abnormalities, brain stem hyperechoic foci compatible with calcifications, macrocephaly secondary to ventriculomegaly and bilateral club foot, all signs suggestive of Moebius syndrome.
On multiple follow up ultrasounds, an increase in ventriculomegaly is visualized, with possible lissencephaly, mega cisterna magna and a reduction in size and volume of the cerebellar vermis. All these findings are later confirmed with a fetal MRI. Read More

Authors:  Innocente Natalia , Pelizzari Mario , Perez Ricardo , Ledesma Ricardo , Giri Cantero Natalia

Keywords:  Moebius, sindrome