Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis

Hv, Toriello; Jv, Higgins; Mann, Robert J.

doi:10.1097/00019605-199510000-00010

Cited by 22 publications

(13 citation statements)

References 18 publications

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“…OAFNS as a distinct and separate condition from OAVS or FND is further supported by the reports of Casey et al [1996] and Toriello et al [1995]. Additional reports are needed, including molecular genetic studies, to identify a possible genetic cause of this rare condition to further distinguish it from OAVS and FND.…”

Section: Discussionmentioning

confidence: 70%

Oculoauriculofrontonasal syndrome (OAFNS) in a nine‐month‐old male

et al. 2001

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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.

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Section: Discussionmentioning

confidence: 70%

Oculoauriculofrontonasal syndrome (OAFNS) in a nine‐month‐old male

et al. 2001

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“…Accordingly in 1968 Gupta already described a patient affected by median facial clefting in combination with Goldenhar-like features and used the term "oculo-auricular cranial dysplasia" for a condition combining both vertical and horizontal malformations of the craniofacial complex (Gupta et al, 1968). According to Toriello the term "oculo-auriculo-fronto-nasal syndrome" (OAFNS) was introduced by Golabi in 1983 (Toriello et al, 1995). Casey in 1996, Ishmael in 2002and Gabbett in 2008 all emphasized that the combination of fronto-nasal and auriculo-mandibular malformations should be regarded as a distinct entity due to the different aetiology and pathogenesis of the observed affections (Casey et al, 1996;Ishmael et al, 2002;Gabbett et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

The oculo-auriculo-fronto-nasal syndrome (OAFNS) – Description of a rare and complex craniofacial deformity and its interdisciplinary management before school age

Adolphs¹,

Arnaud²,

Haberl³

et al. 2012

Journal of Cranio-Maxillofacial Surgery

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“…The craniofacial tissues derive from the cranial neural crest cells, a population of pluripotent cells that arise from the dorsal aspect of the neural tube and migrate to populate the frontonasal process and the first, second, third, and fourth pharyngeal arches (Le Lievre & Le Douarin, ). About 40 individuals with OAFNS have been described in the literature (Adolphs et al, ; Casey, Braddock, Haskins, Carey, & Morales, ; Evans et al, ; Gabbett et al, ; Gawrych, Janiszewska‐Olszowska, & Chojnacka, ; Golabi, Gonzalez, & Edwards, ; Gupta et al, ; Ishmael, Begleiter, Regier, & Butler, ; Johnson, Benoit, Pierre‐Louis, Keating, & Chitayat, ; Musarella & Young, ; Roman Corona‐Rivera et al, ; Toriello, Higgins, & Mann, ; Tunc et al, ). Except for two siblings born from a diabetic mother (Golabi et al, ), all have a sporadic occurrence.…”

Section: Introductionmentioning

confidence: 99%

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Lehalle

Altunoğlu

Bruel

et al. 2018

American J of Med Genetics Pt A

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The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features (micro/anophtalmia, cataract, thyroid agenesis, polymicrogyria, olfactory bulb hypoplasia, and mandibular cleft), and emphasize the high frequency of nasal polyps in OAFNS (56%). We report the negative results of ALX1, ALX3, and ALX4 genes sequencing and nextgeneration sequencing strategy performed on blood-derived DNA from respectively, four and four individuals. Exome sequencing was performed in four individuals, genome sequencing in one patient with negative exome sequencing result. Based on the data from this series and the literature, diverse hypotheses can be raised regarding the etiology of OAFNS: mosaic mutation, epigenetic anomaly, oligogenism, or nongenetic cause. In conclusion, this series represents further clinical delineation work of the rare OAFNS, and paves the way toward the identification of the causing mechanism.

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Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis

Cited by 22 publications

References 18 publications

Oculoauriculofrontonasal syndrome (OAFNS) in a nine‐month‐old male

Oculoauriculofrontonasal syndrome (OAFNS) in a nine‐month‐old male

The oculo-auriculo-fronto-nasal syndrome (OAFNS) – Description of a rare and complex craniofacial deformity and its interdisciplinary management before school age

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

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