Ocular dermoid in Pai Syndrome: A review

Tormey, Peter; Čače, Iva Bilić; Boyle, Michael A

doi:10.1016/j.ejmg.2017.01.008

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…OAFNS‐related facial anomalies can be either nonmidline or midline: in this series, 6/10 (60%) of the patients with a nasal polyp had a paramedian nasal tip polyp (the information about the origin of the polyp is unavailable regarding the four individuals with a nare‐issuing polyp), one had in addition a median philtrum tag; 28% had unilateral cleft lip or palate, 17% had a median cleft lip; and the face was asymmetrical for 83% of the individuals. Furthermore, OAVS features are rarely described in PS: epibulbar dermoid has been reported in three patients (Guion‐Almeida, Mellado, Beltran, & Richieri‐Costa, ; Tormey, Bilic Cace, & Boyle, ), preauricular skin tags in one individual (Abdelmaaboud & Nimeri, ). Yet, the presence of OAVS findings in a patient with PS features should question the diagnosis of PS and rather suggest OAFNS as the accurate diagnosis.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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 clinical overlap between Pai syndrome and OAFNS was reinforced by the case series reported by Lehalle et al (2018), where 10 of 18 patients had facial polyps. Furthermore, the presence of epibulbar dermoid, preauricular tags, dysplastic ears, and vertebral segmentation defects in individuals reported as Pai syndrome increases the clinical overlap with OAFNS (Abdelmaaboud & Nimeri, 2012; Guion‐Almeida et al, 2007; Huckstadt et al, 2018; Tormey et al, 2017). In the present study, Pai syndrome was a relevant differential diagnosis in cases that had facial polyps, unique or multiple, associated with ocular hypertelorism.…”

Section: Discussionmentioning

confidence: 99%

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review

Serigatto

Kokitsu-Nakata

Vendramini-Pittoli

et al. 2023

American J of Med Genetics Pt A

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The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.

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“…4,5,14 Nuestra paciente 2 es el segundo caso con CIV. 12 Aunque está ampliamente descrita la afectación ocular en el SP 6,14,15 (31,81% de los casos revisados), el osteoma coroideo (tumor benigno de la coroides muy raro, capaz de producir tejido óseo en coroides y afectación visual grave) no ha sido informado previamente.…”

Section: Tabla 1 Hallazgos Clínicos De Pacientes Con Síndrome De Paiunclassified

Síndrome de Pai: dos nuevos casos con manifestaciones inusuales

Huckstadt

Mendoza

Moresco

et al. 2018

Arch Argent Pediatr

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Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma.

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Ocular dermoid in Pai Syndrome: A review

Cited by 5 publications

References 8 publications

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

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

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review

Síndrome de Pai: dos nuevos casos con manifestaciones inusuales

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