Review Article
The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
Table 2
Prevalence of clinical features segregated into categories according to the literature.
| | Clinical features | n (%) |
| | Primary criteria | 58 (100) | | Hypertelorism | 55 (94.8) | | Short stature | 48 (82.8) | | Shawl scrotum | 46 (79.3) | | Anteverted nostrils/short nose | 44 (75.9) | | Brachydactyly/wide fingers | 36 (62.1) | | Clinodactyly | 25 (43.1) | | Short/broad hands | 23 (39.7) | | Interdigital webbing | 20 (34.5) | | Camptodactyly | 19 (32.8) | | Syndactyly | 14 (24.1) | | Bottom lip fold | 3 (5.2) |
| | Secondary criteria | | Ptosis | 34 (58.6) | | Cryptorchidism | 29 (50.0) | | Joint hypermobility | 29 (50.0) | | Widow’s peak | 27 (46.6) | | Dysplastic ears | 24 (41.4) | | Downward slanting palpebral fissures | 23 (39.7) | | Inguinal hernia | 21 (36.2) | | Wide feet | 18 (31.0) | | Umbilical hernia | 9 (15.5) | | Prominent umbilicus | 4 (6.9) |
| | Additional criteria | | Long philtrum | 32 (55.2) | | Simian creases | 20 (34.5) | | Frontal bossing | 16 (27.6) | | Midface hypoplasia | 12 (20.7) | | Developmental delay | 10 (17.2) | | Bone age retarded | 7 (12.1) | | Obesity | 6 (10.3) | | Dental malocclusion | 3 (5.2) | | Hypospadias | 1 (1.7) |
| | Others | | Metatarsus varus | 13 (22.4) | | Crease below the lower lip | 11 (19.0) | | Low set ears | 11 (19.0) | | Round face | 10 (17.2) | | Interphalangeal joint contracture | 9 (15.5) | | Ogival palatus | 9 (15.5) | | Pectus excavatum | 8 (13.8) | | Broad nasal ridge | 7 (12.1) | | Micrognathia | 7 (12.1) | | Short neck | 7 (12.1) | | ADHD | 6 (10.3) |
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