Phenotypic variability of Pai syndrome: report of two patients and review of the literature

Vaccarella, F.; Prato, Alessio Pini; Fasciolo, Antonella; Pisano, Michael; Carlini, Claudio; Seymandi, P.L.

doi:10.1016/j.ijom.2008.06.007

Cited by 17 publications

(32 citation statements)

References 17 publications

(63 reference statements)

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“…In the literature, there are a few cases presented as a rare entity called Pai syndrome, consisting of a midline cleft of the upper lip, facial skin polyps and central nervous system lipomas [8]. Hollis reported two patients with nasal lipoma accompanied by pericallosal lipoma [7].…”

Section: Discussionmentioning

confidence: 99%

Fibrolipoma of the nasal septum; report of the first case

Öztürk

İla

Kara

et al. 2013

Journal of Otolaryngology - Head & Neck Surgery

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Background/ObjectiveFibrolipomas are a rare subtype of lipomas and very rare in the oral and maxillofacial region. Lipomas affecting the central nervous system are even more infrequent occurring with a frequency of 0.1%.Study design, methodsCase report.Case presentationThis report includes a patient who had a nasal septal fibrolipoma and an accompanying corpus callosum lipoma.ConclusionsTo our knowledge, this is the first reported nasal septal fibrolipoma case in the literature. The diagnostic and surgical features of this case and the unity of septal fibrolipoma and intracranial lipomas are discussed.

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Section: Discussionmentioning

confidence: 99%

Fibrolipoma of the nasal septum; report of the first case

Öztürk

İla

Kara

et al. 2013

Journal of Otolaryngology - Head & Neck Surgery

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“…1 El SP es un trastorno congénito descrito por primera vez en 1987. 3,6 Se han descrito aproximadamente 28 casos en la bibliografía mundial. La incidencia es mucho mayor en hombres.…”

Section: Discussionunclassified

“…El síndrome de Pai (SP) es un trastorno congénito raro, caracterizado por la asociación de hendidura en la línea media del labio superior, pólipos cutáneos en la cara (principalmente en la mucosa nasal septal y gingival) y lipoma pericalloso. [2][3][4][5][6] Presentamos un paciente de sexo masculino, de 11 meses, con anomalías craneofaciales características del SP; entre ellas, un lipoma intracraneal, que fue un hallazgo de la evaluación preoperatoria.…”

Section: Introductionunclassified

Obstrucción nasal unilateral en niños. Síndrome de Pai

et al. 2011

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Presentación de casos clínicos RESUMEN La obstrucción unilateral de las fosas nasales en niños es causada principalmente por la introducción de cuerpos extraños, se manifiesta con rinorrea y olor fétido. Con menor frecuencia, puede ser de origen traumático, neoplásico, malformativo congénito o iatrogénico. Los síntomas de una masa intranasal congénita pueden manifestarse desde el nacimiento, o pasar desapercibidos y ser un hallazgo en un examen pediátrico de rutina. La evaluación del paciente debe incluir estudios por imágenes para orientar al diagnóstico y descartar una extensión intracraneal. Un síndro-me asociado al tumor nasal congénito debe sospecharse cuando existen otras anomalías. El síndrome de Pai es un trastorno genético raro. Sus manifestaciones son craneofaciales y su marcador principal es el pólipo nasal congénito. Presentamos un paciente con insuficiencia ventilatoria nasal unilateral secundaria a un lipoma nasal congénito, junto a anomalías craneofaciales del síndrome de Pai. La obstrucción nasal fue resuelta quirúrgicamente en forma exitosa. Palabras clave: obstrucción nasal unilateral, síndrome de Pai, lipoma.

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“…The other with hypotelorism (a decreased distance between the eyes), this includes holoprosencephaly (failure of development of the forebrain). 4 In addition, a facial cleft can be classified using the Tessier classification. Each of the clefts is numbered from 0 to 14.…”

Section: Introductionmentioning

confidence: 99%

Frontonasal dysplasia- a rare case report

Sharma¹,

Dogra²,

Malhotra³

et al. 2017

Int J Res Med Sci

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Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. We report here a rare case of a full-term male baby who presented with features of FND. There was no history of consanguinity, no positive family history. Antenatal ultrasonography was normal. Though this baby did not survive because the defects were not compatible for the survival. But the developing nations still have handicap in the management of such cases in term of fiancés, surgical correction of such major defects, education and social support in these patients.

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Phenotypic variability of Pai syndrome: report of two patients and review of the literature

Cited by 17 publications

References 17 publications

Fibrolipoma of the nasal septum; report of the first case

Fibrolipoma of the nasal septum; report of the first case

Obstrucción nasal unilateral en niños. Síndrome de Pai

Frontonasal dysplasia- a rare case report

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