Oculodental digital dysplasia: neuroimaging in a kindred.
Oculodental digital dysplasia (ODDD) is an uncommon inherited disorder with characteristic facial abnormalities, defects in dentition and syndactyly; previous reports have described neurologic dysfunction. We present neuroimaging features of a mother and daughter with ODDD; despite only the mother having neurologic dysfunction, the MRI findings in both are strikingly similar.
Ginsberg
L E
LE
Department of Radiology, M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Jewett
T
T
Grub
R
R
McLean
W T
WT
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003744:Dental Enamel Hypoplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome