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. Author manuscript; available in PMC: 2019 May 6.
Published in final edited form as: Am J Med Genet A. 2016 Sep 19;170(11):2870–2881. doi: 10.1002/ajmg.a.37688

TABLE III.

Physical Examination Results*

Age 0–5 years, n = 34 (%) Age 6–12 years, n = 18 (%) Age 13 years +, n = 22 (%) Total, n = 74 (%)
Median height (Z-score) 0.30 1.10 1.08 0.72
Height range (Z-score) −2.6 to 2.0 −0.62 to 2.26 −2.95 to 2.73 −2.95 to 2.73
Median weight (Z-score) 0.13 0.09 0.73 0.42
Weight range (Z-score) −1.81 to 2.44 −1.63 to 1.57 −1.52 to 2.60 −1.81 to 2.60
Body mass index (Z-score) 0.25 −0.18 0.33 0.09
Body mass index range (Z-score) −2.18 to 2.20 −2.25 to 0.84 −2.58 to 2.31 −2.58 to 2.31
Median head circumference (Z-score) 0.19 −0.22 0.54 0.21
Head circumference range −1.76 to 2.78 −1.47 to 1.25 −2.1 to 3.20 −2.16 to 3.20
Facial asymmetry 1/32 (3.1) 1/17 (5.9) 4/22 (18.2) 6/71 (8.5)
Epicanthal folds 23/32 (71.8) 3/17 (17.6) 5/22 (22.7) 31/71 (43.7)
Hypertelorism 21/32 (65.6) 4/17 (23.5) 12/22 (54.5) 37/71 (43.7)
Upslanting palpebral fissures 5/32 (15.6) 4/17 (23.5) 2/22 (9.1) 11/71 (15.5)
High arch palate 2/32 (6.3) 2/17 (11.8) 2/22 (9.1) 6/71 (8.5)
Poor dentitiona 5/32 (15.6) 4/17 (23.5) 8/22 (36.4) 17/71 (23.9)
5th digit clinodactyly 12/33 (36.3) 6/17 (35.3) 8/22 (36.4) 26/72 (36.1)
Pes planus 16/32 (50.0) 5/16 (31.3) 5/22 (22.7) 26/71 (36.6)
Ankle pronation 8/32 (25.0) 1/17 (5.9) 2/22 (9.1) 11/71 (15.5)
Scoliosis or Kyphosis 7/22 (31.8)
Hypotonia 22/33 (66.7) 7/17 (41.2) 7/22 (31.8) 36/72 (50.0)
Tremorb 3/33 (9.1) 5/17 (29.4) 9/22 (40.9) 17/72 (23.6)
*

Number of subjects at top of column unless otherwise noted.

a

Poor dentition classified as four or more caries/fillings, significant malocclusion, current or previous orthodontia, or edentulous.

b

Tremor included intention and/or postural tremor.