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Pai syndrome is a rare disorder characterized by midline facial anomalies, such as cleft lip and cleft palate of variable complexity, associated with benign facial tumor consisting of simple or multiple sessile or pedunculated polyps of the skin and nasal mucosa (Pai et al. Am J Med Genet. 26:921–4, 1987). Affected individuals often also have mild hypertelorism and an interhemispheric lipoma with or without corpus callosum agenesis/dysgenesis. Neuropsychologic development is normal. The syndrome is also rarely associated with ocular abnormalities, such as iris coloboma (Rudnik-Schoneborn and Zerres, J Med Genet. 31:497–8, 1994). Other findings that have been rarely reported include temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy (Lederer et al. Am J Med Genet A. 158:2899–904, 2012).

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Median Cleft Lip and Palate, Cutaneous Nasal Polyps, and Corpus Callosum Lipoma: A Case of Pai Syndrome Associated with Ventricular Septal Defects

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  • 发表日期：

    2025年

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  • Jose H. Ochoa,
  • Rolando P. Vildoza,
  • Adriana Echegaray,
  • Alejandra Colubriale

摘要

Pai syndrome is a rare disorder characterized by midline facial anomalies, such as cleft lip and cleft palate of variable complexity, associated with benign facial tumor consisting of simple or multiple sessile or pedunculated polyps of the skin and nasal mucosa (Pai et al. Am J Med Genet. 26:921–4, 1987). Affected individuals often also have mild hypertelorism and an interhemispheric lipoma with or without corpus callosum agenesis/dysgenesis. Neuropsychologic development is normal. The syndrome is also rarely associated with ocular abnormalities, such as iris coloboma (Rudnik-Schoneborn and Zerres, J Med Genet. 31:497–8, 1994). Other findings that have been rarely reported include temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy (Lederer et al. Am J Med Genet A. 158:2899–904, 2012).