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Table 1 Comparisons of demographic and clinical characteristics between the patients and affected members of the previous generation

From: Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

  Total (n = 26) Patient (n = 12) Parents and/or grandparents (n = 14) p
Sex     0.127
 Male 9(35%) 6(50%) 3(21%)  
 Female 17(65%) 6(50%) 11(79%)  
Age of onset 16.0 ± 10.1 9.5 ± 4.5 21.6 ± 10.4 0.001*
Amblyopia     0.034*
 Present 16(62%) 10(83%) 6(43%)  
 Absent 10(38%) 2(17%) 8(57%)  
Motility disorders     0.009*
 Present 17(65%) 11(92%) 6(43%)  
 Absent 9(35%) 1(8%) 8(57%)  
Corneal abnormalities     0.490
 Present 5(19%) 3(25%) 2(14%)  
 Absent 21(81%) 9(75%) 12(86%)  
Optic nerve abnormalities     0.449
 Present 3(12%) 2(17%) 1(7%)  
 Absent 23(88%) 10(83%) 13(83%)  
Ptosis     0.345
 Present 25(96%) 12(100%) 13(93%)  
 Absent 1(4%) 0(0%) 1(7%)  
Proptosis     0.127
 Present 9(35%) 6(50%) 3(21%)  
 Absent 17(65%) 6(50%) 11(79%)  
Canthal abnormalities     0.356
 Present 22(85%) 11(92%) 11(79%)  
 Absent 4(15%) 1(8%) 3(21%)  
Café au lait spots     1.000
 Present 26(100%) 12(100%) 14(100%)  
 Absent 0(0%) 0(0%) 0(0%)  
Facial descent     0.126
 Present 11(44%) 7(58%) 4(29%)  
 Absent 15(56%) 5(42%) 10(71%)  
Cheek deformities     0.126
 Present 11(44%) 7(58%) 4(28%)  
 Absent 15(56%) 5(42%) 10(72%)  
Bony orbital expansion     0.019*
 Present 9(35%) 7(58%) 2(14%)  
 Absent 17(65%) 5(42%) 12(86%)  
Soft tissue expansion of eyelids     0.173
 Present 25(96%) 12(100%) 12(86%)  
 Absent 1(4%) 0(0%) 2(14%)  
  1. *Statistically significant