Table 1.
Clinical description of the Teebi et al. (1993) criteria evaluated in patients and their mothers with AAS.
| Features | Patients evaluated | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Male | Female | ||||||||
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | |
| Primary criteria | |||||||||
| Hypertelorism | + | + | + | + | + | + | + | + | − |
| Anteverted nostrils | + | − | + | − | + | + | − | + | − |
| Bottom lip Fold | + | + | + | + | + | + | + | − | + |
| Brachydactyly/wide fingers | + | − | + | + | + | + | − | + | − |
| Interdigital tracts | + | − | + | + | + | − | − | + | − |
| Shawl Scrotum | + | + | − | + | + | NA | NA | NA | NA |
| Syndactyly | − | − | + | + | − | − | − | − | − |
| Clinodactyly | + | − | − | − | + | + | − | − | − |
| Camptodactyly | − | − | − | + | + | + | − | − | − |
| Short stature | + | + | + | + | + | + | − | + | − |
| Secondary criteria | |||||||||
| Widow's peak | + | + | + | + | + | + | + | + | + |
| Ptosis | − | − | − | + | + | − | − | − | − |
| Downward slant palp | − | − | − | + | + | − | − | − | − |
| Joint hypermobility | + | + | − | + | + | − | + | + | − |
| Wide foot | + | − | − | + | + | − | − | − | + |
| Inguinal/umbilical hernia | − | + | + | − | + | − | − | − | − |
| Cryptorchidism | + | + | − | + | + | NA | NA | NA | NA |
| Dysplastic ears | + | + | − | + | + | − | − | − | − |
| Prominent umbilicus | − | − | + | − | − | − | − | + | − |
| Additional criteria | |||||||||
| Obesity | + | − | − | + | − | − | − | − | − |
| Long philtrum | + | + | − | + | + | − | − | + | − |
| Midface hypoplasia | + | − | + | + | + | + | + | + | − |
| Dental malocclusion | + | − | + | + | − | − | − | − | − |
| Transverse palmar crease | + | − | − | − | + | − | − | − | − |
| Hypospadias | − | + | − | − | − | NA | NA | NA | NA |
| Frontal bossing | + | + | + | − | − | − | − | + | − |
| Psychomotor retardation | − | − | − | + | − | − | − | + | − |
+, characteristic present; −, characteristic absent, NA, not applicable; ASS, Aarskog–Scott syndrome.