Chacterizing the oculoauriculofrontal syndrome

Michael T. Gabbett, Stephen P. Robertson, Roland Broadbent, Salim Aftimos, Rani Sachdev and Marjan M. Nezarati (2008) Chacterizing the oculoauriculofrontal syndrome. Clinical Dysmorphology, 17 2: 79-85. doi:10.1097/MCD.0b013e3282f449c8

Author Michael T. Gabbett
Stephen P. Robertson
Roland Broadbent
Salim Aftimos
Rani Sachdev
Marjan M. Nezarati
Title Chacterizing the oculoauriculofrontal syndrome
Journal name Clinical Dysmorphology   Check publisher's open access policy
ISSN 0962-8827
Publication date 2008-04-01
Year available 2008
Sub-type Article (original research)
DOI 10.1097/MCD.0b013e3282f449c8
Open Access Status
Volume 17
Issue 2
Start page 79
End page 85
Total pages 7
Place of publication United States
Publisher Lippincott Williams & Wilkins
Language eng
Subject 110311 Medical Genetics (excl. Cancer Genetics)
9201 Clinical Health (Organs, Diseases and Abnormal Conditions)
Abstract 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.
Keyword frontonasal
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2009 Higher Education Research Data Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 12 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 12 times in Scopus Article | Citations
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Created: Tue, 03 Mar 2009, 01:17:11 EST by Amanda Jones on behalf of Paediatrics & Child Health - RBWH