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Table 2 Frequency of different clinical features in Chinese and Western FHS patients

From: Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Clinical Features Frequency in present study (%) Frequency reported (%)
Short Stature 12/12 (100.0) 59/70 (84.3)
Delayed Bone Age 10/10 (100.0) 38/68 (55.9)
Microcephaly 6/7 (85.7) 10/67 (14.9)
Short Neck 6/12 (50.0) 8/U
Triangular Face 8/12 (66.7) 61/64 (95.3)
Eyes
 • Deep-set Eyes 4/12 (33.3) 59/61 (96.7)
 • Strabismus 4/12 (33.3) 8/46 (17.4)
 • Long Eyelashes 9/12 (75.0) 58/59 (98.3)
Nose
 • Large Nares 9/12 (75.0) 2/U
 • Low-hanging Columella 7/12 (58.3) 70/70 (100.0)
Mouth
 • Thin Upper Vermilion Border 8/12 (66.7) 67/67 (100.0)
 • Wide Mouth 3/12 (25.0) 19/62 (30.6)
 • Short Philtrum 7/12 (58.3) 65/69 (94.2)
Ears
 • Large Ears 8/12 (66.7) 3/U
 • Low Set Ears 7/12 (58.3) 54/56 (96.4)
 • Ear Deformity 7/9 (77.8) NA
Dental Issues
 • Small Teeth/Widely Spaced Teeth 7/10 (70.0) 15/41 (36.6)
 • Malocclusion/Underbite 3/12 (25.0) 4/43 (9.3)
 • Cavities 3/8 (37.5) 6/40 (15.0)
Voice and Language
 • Hypernasality 3/12 (25.0) 9/U
 • Expressive Language Delay 12/12 (100.0) 68/69 (98.6)
Feet and hands
 • Broad Thumbs 6/12 (50.0) 12/27 (44.4)
 • Brachydactyly 8/12 (66.7) 14/U
 • Broad Fingertips 4/12 (33.3) 4/U
 • Clinodactyly V finger 4/12 (33.3) 13/U
Congenital Heart Defects 3/7 (42.9) 4/54 (7.4)
Genitourinary
 • Micropenis 2/6 (33.3) NA
 • Small Testis 1/6 (16.7) NA
Gastrointestinal Motility Issues 5/10 (50.0) 14/54 (25.9)
Mild to Moderate Intellectual Disability 11/12 (91.7) 45/56 (80.4)
Behavioral Issues 6/12 (50.0) 27/60 (45.0)
  1. NA data not available, U denominator unknown