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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