Síndrome de Pai: dos nuevos casos con manifestaciones inusuales

Huckstadt, Victoria; Mendoza, María E Heis; Moresco, Angélica; Obregón, María Gabriela

doi:10.5546/aap.2018.e336

Cited by 1 publication

(1 citation statement)

References 14 publications

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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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