Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.
We report a nine-month-old Caucasian male with features seen in oculoauriculovertebral spectrum (OAVS) and frontonasal dysplasia sequence (FND) born to normal, non-consanguineous parents and review the literature. His malformations included a left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, bilateral cleft lip and palate, bifid broad nasal tip, ocular hypertelorism, micrognathia, hypoplastic mandible, an extra cervical rib on the left, hemivertebrae at T3-4, agenesis of the posterior corpus callosum with a midline lipoma, and an extra renal pelvis. This constellation of anomalies is consistent with the diagnosis of oculoauriculofrontonasal syndrome (OAFNS) which appears to be a distinct condition from either OAVS or FND but with overlapping features.
Ishmael
Holly A
HA
Children's Mercy Hospital and Clinic, Kansas City, Missouri 64108, USA.
Begleiter
Michael L
ML
Regier
Elizabeth J
EJ
Butler
Merlin G
MG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*