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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.