P

 

Pai sendromu

Kalıtsal - AD

Alın geniş

Hipertelorizm

Gözler çekik

İris koloboması

Burun polipleri

Yüz derisinde papillomatöz oluşumlar

Yarık üst dudak (orta çizgi)

Çukur damak

Uvula bifida

Beyinde orta çizgi lipomaları

 

  • 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