Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.
We report a male with features of frontonasal dysplasia, but also with ocular and auricular defects. This child most likely has oculoauriculofrontonasal syndrome, an autosomal recessive syndrome first described in 1981. We also review the literature on this syndrome, and discuss differential diagnosis.
Toriello
H V
HV
Butterworth Hospital, Grand Rapids, MI, USA.
Higgins
J V
JV
Mann
R
R
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003103:Coloboma / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities