Table 2.
Frequency of different clinical features in Chinese and Western FHS patients
| 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) |
NA data not available, U denominator unknown