Characterizing the oculoauriculofrontonasal syndrome.
Human dysmorphology syndromes are frequently defined by characteristic abnormalities in facial morphogenesis. Two such well recognized syndromes are the oculoauriculovertebral spectrum (OAVS) and frontonasal dysplasia (FND). OAVS is diagnosed on the basis of the presence of typical facial features which can include microtia, preauricular tags, hemifacial microsomia, lateral face clefting, epibulbar dermoids, and upper palpebral colobomata. FND is characterized by ocular hypertelorism, nasal clefting, and anterior cranium bifidum occultum. After the first patient was described with features of both OAVS and FND, at least a further 25 patients presenting the 'oculoauriculofrontonasal syndrome' (OAFNS) have been reported. We report on four more patients with OAFNS and review their features, together with those of the other patients reported in the medical literature. We suggest that, statistically, OAFNS is more likely to be a sporadically occurring condition rather than an inherited autosomal recessive trait, as previously suggested. We cannot, however, definitively exclude the possibility of autosomal dominant transmission. Considering the question of whether OAFNS is a part of OAVS, FND, or a distinct clinical entity, we conclude that, for the time being, OAFNS should be considered to be a distinct syndrome, to further our understanding of the aetiology of these conditions.
Gabbett
Michael T
MT
Genetic Health Queensland, Royal Children's Hospital Discipline of Paediatrics & Child Health, School of Medicine, University of Queensland, Brisbane Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin Northern Regional Genetics Services, Auckland, New Zealand North York General Hospital Genetics Program, Toronto, Canada.
Robertson
Stephen P
SP
Broadbent
Roland
R
Aftimos
Salim
S
Sachdev
Rani
R
Nezarati
Marjan M
MM
D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000209:etiology / Q000473:pathology*; D019066:Facies; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D012196:Review Literature as Topic; D013577:Syndrome