Pai sendromu

Pai sendromu, otosomal dominant yolla aktarılan, ender görülen, kalıtsal bir sendromdur. Yüz derisinde papillomatöz oluşumlar, burun polipleri, üst dudakta orta çizgi yarığı, göz anomalileri (iriste koloboma) ile beyinde orta çizgide ve corpus callosum çevresinde yağ dokusu uru (pericallosal lipoma) bulguları ön plandadır.[1][2][3]

Ayrıca, belli belirsiz bir hipertelorizm vardır. Gözler çekiktir. Dudak yarığına ek olarak küçük dil yarığı (uvula bifida) belirlenir. Damak kubbesi yüksektir.[1][2][3]

İris koloboması: doğumsal bir göz defekti

Kaynakça

Pai GS, Levkoff AH, Leithiser RE Jr. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. American Journal of Medical Genetics, 26: 921-924, 1987
Lees MM, Connelly F, Kangesu L, et al. Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome? Clinical Dysmorphology, 15: 155-159, 2006
Guion-Almeida ML, Mellado C, Beltran C, Richieri-Costa A. Pai syndrome: report of seven South American patients. Am. J. Med. Genet. 143A: 3273-3279, 2007

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[:0-1] Pai GS, Levkoff AH, Leithiser RE Jr. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. American Journal of Medical Genetics, 26: 921-924, 1987

[:1-2] Lees MM, Connelly F, Kangesu L, et al. Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome? Clinical Dysmorphology, 15: 155-159, 2006

[:2-3] Guion-Almeida ML, Mellado C, Beltran C, Richieri-Costa A. Pai syndrome: report of seven South American patients. Am. J. Med. Genet. 143A: 3273-3279, 2007