Table 1 Dysmorphic features associated with PMS

Sparse hair/abnormal whorl

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

16% (5/32)

n/a

16

Macrocephaly

n/a

n/a

n/a

n/a

n/a

7% (2/30)

n/a

n/a

21% (9/43)

n/a

23% (11/47)

31% (10/32)

18% (20/110)

17

Microcephaly

n/a

n/a

n/a

n/a

n/a

13% (4/30)

n/a

n/a

11% (5/43)

n/a

14% (6/42)

6% (2/32)

11% (12/110)

12

Dolichocephaly

86% (6/7)

57% (21/37)

n/a

n/a

0% (0/9)

23% (7/30)

30% (32/107)

n/a

n/a

n/a

30% (16/54)

25% (8/32)

32% (36/113)

37

Periorbital fullness

n/a

n/a

n/a

45% (5/11)

n/a

60% (18/30)

n/a

n/a

n/a

n/a

n/a

25% (8/32)

55% (60/109)

46

Epicanthal folds

57% (4/7)

41% (15/37)

n/a

73% (8/11)

n/a

37% (11/30)

30% (32/107)

70% (9/13)

n/a

n/a

n/a

31% (10/32)

47% (52/111)

48

Ptosis

43% (3/7)

57% (21/37)

n/a

n/a

0%

n/a

23% (25/107)

n/a

n/a

n/a

n/a

3% (1/32)

47% (53/112)

29

Deep set eyes

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

14% (1/7)

n/a

6% (2/32)

31% (34/111)

19

Long eyelashes

n/a

n/a

n/a

45% (5/11)

n/a

37% (11/30)

n/a

n/a

n/a

n/a

n/a

44% (14/32)

93% (105/113)

58

Hypertelorism

n/a

n/a

n/a

36% (4/11)

n/a

17% (5/30)

n/a

n/a

n/a

n/a

n/a

13% (4/32)

n/a

22

Wide nasal bridge

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

16% (5/32)

n/a

16

Bulbous nose

n/a

n/a

n/a

n/a

n/a

80% (24/30)

n/a

70% (9/13)

n/a

n/a

61% (33/54)

47% (15/32)

n/a

65

Low set ears

n/a

n/a

n/a

n/a

n/a

7% (2/30)

n/a

n/a

n/a

14% (1/7)

n/a

3% (1/32)

n/a

5

Ear anomalies

86% (6/7)

65% (24/37)

82% (27/33)

27% (3/11)

67% (6/9)

73% (22/30)

54% (58/107)

70% (9/13)

n/a

n/a

n/a

41% (13/32)

n/a

63

Full lips

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

31% (10/32)

n/a

31

High arched palate

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

25% (8/32)

47% (49/104)

36

Long philtrum

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

16% (5/32)

n/a

16

Malocclusion/widely spaced teeth

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

19% (6/32)

n/a

19

Micrognathia

n/a

n/a

n/a

n/a

n/a

10% (3/30)

n/a

n/a

n/a

n/a

n/a

13% (4/32)

n/a

12

Full cheeks

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

25% (8/32)

n/a

25

Malar hypoplasia

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

9% (3/32)

n/a

9

Flat midface

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

3% (1/32)

n/a

3

Pointed chin

n/a

62% (23/37)

n/a

n/a

56% (5/9)

n/a

27% (29/107)

n/a

n/a

n/a

n/a

22% (7/32)

52% (58/111)

44

Fifth finger clinodactyly

n/a

14% (5/37)

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

9% (3/32)

n/a

12

Large fleshy hands

n/a

68% (25/37)

n/a

n/a

56% (5/9)

47% (14/30)

33% (35/107)

46% (6/13)

n/a

n/a

55% (29/53)

53% (17/32)

63% (71/112)

53

Hypoplastic/dysplastic nails

n/a

78% (29/37)

n/a

27% (3/11)

56% (5/9)

3% (1/30)

36% (39/107)

23% (3/13)

n/a

n/a

75% (40/53)

34% (11/32)

73% (81/111)

45

Hyper-extensibility

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

25% (8/32)

61% (68/111)

86

Abnormal spine curvature

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

22% (7/32)

n/a

22

Sacral dimple

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

37% (19/52)

13% (4/32)

n/a

25

Syndactyly of toes 2 and 3

n/a

38% (14/37)

n/a

45% (5/11)

n/a

43% (13/30)

23% (25/107)

n/a

n/a

n/a

n/a

9% (3/32)

48% (53/110)

34