Table 3

Fragile X features in females for different age categories3-150

⩽16 years % (95% CI) (n=216)>16 years % (95% CI) (n=467)Total %
(95% CI)
(n=683)
Fragile X related features
Family history of mental retardation21  (15-26)13  (10-16)16  (13-18)
Elongated face5 (2-8)4 (3-7)4 (3-7)
Large and prominent ears2 (1-5)3 (2-6)3 (2-5)
Hyperextensible joints
MC digit V34 (27-40)18 (14-21)23 (20-26)
 MC digit V and digit I5 (2-8)2 (1-4)3 (2-5)
Soft/smooth skin1 (0-3)5 (4-8)4 (3-6)
Personality1 (0-3)4 (2-6)3 (2-5)
Non-fragile X related features
Microcephaly9 (6-14)21 (18-25)17 (15-20)
Non-fra(X) related dysmorphic features
(⩾3 or microcephaly)3-151
18 (13-23)47 (43-52)38 (34-42)
  • 3-150 For some items (predominantly family history) some patients (<5%) could not be scored.

  • 3-151 Facial and hands.