PT  - JOURNAL ARTICLE
AU  - Poretti, A.
AU  - Brehmer, U.
AU  - Scheer, I.
AU  - Bernet, V.
AU  - Boltshauser, E.
TI  - Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
AID  - 10.3174/ajnr.A1038
DP  - 2008 Jun 01
TA  - American Journal of Neuroradiology
PG  - 1090--1091
VI  - 29
IP  - 6
4099  - http://www.ajnr.org/content/29/6/1090.short
4100  - http://www.ajnr.org/content/29/6/1090.full
SO  - Am. J. Neuroradiol.2008 Jun 01; 29
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.