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Proposed MR imaging features of hypothalamic malformations in patients with DFNX2 compared with age-matched controlsa
Patients with DFNX2 (n = 10)Age-Matched Controls (n = 69)
Axial T2
 Folded appearance70% (P < .001; κ = 0.95)0%
 Bilateral abnormal internal or external cleft60% (P < .001; κ  = 0.83)0%
Coronal T2
 Concave medial eminence75% (P < .001; κ  = 0.78)0%
 Right hypothalamic-septum angle115.5° ± 17.34° (P < .001)79° ± 8.05°
ICC = 0.88 (95% CI, 0.75–0.95)
 Left hypothalamic-septum angle113.87° ± 16.87° (P < .001)81.87° ± 9.32°
ICC = 0.77 (95% CI, 0.58–0.89)
 Right forebrain-hypothalamus length (mm)7.15 ± 3.02 (P < .001)4.26 ± 0.7
ICC = 0.92 (95% CI, 0.70–0.97)
 Left forebrain-hypothalamus length (mm)6.9 ± 2.1 (P < .001)4.21 ± 0.73
ICC = 0.87 (95% CI, 0.70–0.95)
  • Note:—κ indicates the Cohen κ coefficient.
  • ↵a Data are mean values ± standard deviation. P values correspond to Wilcoxon/Mann-Withney test for differences in means of DFNX2 versus age-matched controls.