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Table 1 Major and minor clinical features of KBG syndrome.

From: KBG syndrome

CLINICAL CHARACTERISTICS % of KBG patients (counted individuals)
Major Features  
   Facial dysmorphisms 100 (45)
   Prominent/high nasal bridge 78
   Thin upper lip 71
   Anteverted nostrils 62
   Brachycephaly/turricephaly 60
   Telecanthus/hypertelorism 58
   Long philtrum 51
   Wide eyebrows 49
   Prominent/anteverted ears 42
   Mild synophrys 35
   Epicanthal folds 26
   Ptosis 24
   Facial asymmetry 24
   Macrodontia 100* (42)
   with oligodontia 38 (45)
   Skeletal abnormalities 100
   Abnormal ribs/vertebrae 83 (35)
   Delayed bone age 79 (28)
   Short hand tubular bones 78 (40)
   Brachy-clinodactylous 5th finger 62 (45)
   Abnormal spine curvature 58 (31)
   Short femoral necks/hip dysplasia 50 (26)
   Sternum abnormalities 29 (44)
   Wormian bones in skull 19 (21)
   Cognitive deficits/psychomotor delay 91 (45)
   Short stature (<10°c) 77 (45)
   Abnormal EEG 72 (25)
   with seizures 24 (45)
   Abnormal hair implantation 58 (45)
Minor Features  
   Cutaneous syndactyly, toes II/III 46 (45)
   Webbed/short neck 42 (38)
   Cryptorchidism 28 (29)
   Hearing loss 23 (43)
   Palatal defects (including uvula) 18 (38)
   Strabismus 18 (45)
   Congenital heart defects 9 (45)
  1. *in three patients macrodontia was only reported on interview as premature loss of teeth occurred