In this article, we describe a patient with Pai syndrome. This infant was born with an unusual median cleft of the upper lip, a pedunculated cutaneous mass that protruded from the right nostril, double frenulum of the upper lip, and median alveolar cleft. MRI showed a midline corpus callosal lipoma. Mental development was normal and chromosomal analysis revealed a normal male 46, XY karyotype.
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Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown.
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