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Table 2 Medical features associated with PMS

From: Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Medical feature

Nesslinger et al. [[35]]

Phelan et al. [[27]]a

Luciani et al. [[33]]

Manning et al. [[34]]

Koolen et al. [[32]]

Jeffries et al. [[31]]

Cusmano-Ozog et al. [[41]]a

Dhar et al. [[30]]

Rollins [[38]]a

Denayer et al. [[29]]

Sarasua et al. [[40]]a

Soorya et al. [[37]]

Sarasua et al. [[39]]a

Average (%)

n= 7

n= 37

n= 33

n= 11

n= 9

n= 30

n= 107

n=13

n= 43

n= 7

n= 54

n= 32

n= 201

Hypotonia

100% (7/7)

97% (36/37)

82% (27/33)

82% (9/11)

89% (8/9)

47% (14/30)

86% (92/107)

31% (4/13)

n/a

29% (2/7)

80% (48/60)

75% (24/32)

75% (82/110)

73

Sleep disturbance

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

41% (13/32)

46% (12/26)

44

Gastroesophageal reflux

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

44% (14/32)

42% (62/149)

43

Increased pain tolerance

n/a

n/a

n/a

0%

n/a

10% (3/30)

31% (33/107)

n/a

n/a

n/a

n/a

88% (28/32)

77% (131/170)

42

Constipation/diarrhea

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

38% (12/32)

41% (11/27)

40

Brain imaging abnormalities

14% (1/7)

n/a

n/a

9% (2/23)

n/a

7% (2/30)

n/a

56% (5/9)

n/a

43% (3/7)

n/a

75% (21/28)

19% (24/129)

32

Recurring upper respiratory tract infections

n/a

n/a

n/a

n/a

n/a

n/a

n/a

8% (1/13)

n/a

n/a

n/a

53% (17/32)

n/a

30

Renal abnormalities

n/a

n/a

n/a

n/a

n/a

17% (5/30)

n/a

n/a

n/a

n/a

n/a

38% (12/32)

26% (39/148)

27

Lymphedema

29% (2/7)

n/a

n/a

n/a

n/a

n/a

n/a

23% (3/13)

n/a

n/a

n/a

22% (7/32)

24% (26/108)

25

Seizures (febrile and/or non-febrile)

14% (1/7)

27% (10/37)

24% (8/33)

27% (3/11)

n/a

17% (5/30)

23% (25/107)

31% (4/13)

n/a

14% (1/7)

19% (10/54)

41% (13/32)

27% (41/151)

24

Esotropia/strabismus

n/a

n/a

n/a

n/a

n/a

13% (4/30)

n/a

n/a

n/a

14% (1/7)

25% (13/53)

6% (2/32)

26% (29/109)

17

Short stature/delayed growth

0% (0/7)

n/a

12% (4/33)

n/a

n/a

n/a

11% (12/107)

n/a

12% (5/43)

n/a

13% (5/40)

13% (4/32)

11% (11/96)

12

Tall stature/accelerated growth

14% (1/7)

n/a

18% (6/33)

n/a

n/a

7% (2/30)

n/a

n/a

11% (5/43)

n/a

13% (5/40)

3% (1/32)

9% (9/96)

11

Cardiac defects

n/a

n/a

n/a

n/a

n/a

13% (4/30)

n/a

n/a

n/a

n/a

n/a

3% (1/32)

n/a

8

Precocious or delayed puberty

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

0% (0/32)

12% (15/121)

6

Hypothyroidism

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)

6% (7/121)

5

  1. n/a = not available.
  2. aThese studies included cases previously reported in the literature and their samples overlap, at least partial.