Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound.
Oculoauriculofrontonasal syndrome is a rare developmental field defect that represents an abnormal morphogenesis of the frontonasal eminence. It consists of features of both oculoauriculovertebral spectrum and frontonasal malformation. A few cases in the literature have described this syndrome, but to the best of our knowledge the present case is the first early prenatal diagnosis of this severe condition using three-dimensional ultrasonography.
Johnson
J M
JM
Division of Maternal-Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. jjohnson@mtsinai.on.ca
Benoit
B
B
Pierre-Louis
J
J
Keating
S
S
Chitayat
D
D
D000328:Adult; D004431:Ear, External / Q000002:abnormalities* / Q000000981:diagnostic imaging; D042241:Early Diagnosis; D005143:Eyelids / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007569:Jaw Abnormalities / Q000000981:diagnostic imaging*; D009666:Nose / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009900:Optic Nerve / Q000002:abnormalities*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D014463:Ultrasonography