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Table 1 Dysmorphic features associated with PMS

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

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