RT Journal Article
SR Electronic
T1 Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1090
OP 1091
DO 10.3174/ajnr.A1038
VO 29
IS 6
A1 A. Poretti
A1 U. Brehmer
A1 I. Scheer
A1 V. Bernet
A1 E. Boltshauser
YR 2008
UL http://www.ajnr.org/content/29/6/1090.abstract
AB SUMMARY: We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible.