Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
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.
Poretti
A
A
Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland.
Brehmer
U
U
Scheer
I
I
Bernet
V
V
Boltshauser
E
E
D002526:Cerebellar Diseases / Q000151:congenital* / Q000175:diagnosis*; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D013577:Syndrome