Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
H D CaseyL Morales

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 OA...Continue Reading

References

Jun 1, 1988·Oral Surgery, Oral Medicine, and Oral Pathology·H O Sedano, R J Gorlin
Jan 1, 1986·American Journal of Medical Genetics. Supplement·M A Musarella, I D Young
Apr 1, 1968·The British Journal of Ophthalmology·J S GuptaS K Prashar
Aug 1, 1993·American Journal of Medical Genetics·J Ignacio RodríguezP Lapunzina

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Citations

Jan 25, 2002·American Journal of Medical Genetics·Holly A IshmaelMerlin G Butler
Jan 17, 2012·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Nicolai AdolphsBodo Hoffmeister
Dec 14, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J M JohnsonD Chitayat
Oct 24, 2007·American Journal of Medical Genetics. Part a·E WuA M Slavotinek
Mar 14, 2007·American Journal of Medical Genetics. Part a·Chumei LiAlbert E Chudley
May 3, 2013·American Journal of Medical Genetics. Part a·Kelly N EvansAnne V Hing
Nov 11, 2006·American Journal of Medical Genetics. Part a·Fedik RahimovJeffrey C Murray
Jul 14, 2001·Otolaryngologic Clinics of North America·D L Mandell
Oct 11, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Turan TuncMuhitdin Eski
Apr 5, 2008·Clinical Dysmorphology·Michael T GabbettMarjan M Nezarati
Jun 5, 2007·Journal of Pediatric Ophthalmology and Strabismus·Zia ChaudhuriSanjiv Mohan
Aug 13, 2004·Journal of Pediatric Ophthalmology and Strabismus·Vimala MenonRohit Saxena

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