Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.

Abstract:

:Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.

authors

Casey HD,Braddock SR,Haskins RC,Carey JC,Morales L Jr

doi

10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2

subject

Has Abstract

pub_date

1996-11-01 00:00:00

pages

519-23

issue

6

eissn

1055-6656

issn

1545-1569

journal_volume

33

pub_type

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