Table 1.
Characteristics of SRS in the Proband[Note]
| Characteristic of SRS | Status in Probanda | Occurrence in Patients with SRS (%) |
| Diagnostic: | ||
| Born small for gestational age | + | 94 |
| Postnatal growth retardation | + | 100 |
| Relative macrocephaly | + | 64 |
| Triangular face | + | 83 |
| Bossing forehead | + | 65 |
| Downturned mouth corners | + | 74 |
| Micrognathia | − | 33 |
| Clino- and/or brachydactyly | + | 80 |
| Asymmetry | − | 74 |
| Confirmatory: | ||
| Feeding difficulties | + | 56 |
| Low-set ears/ear anomalies | + | 53 |
| High-pitched voice | + | 22 |
| Delayed closure of anterior fontanelle | + | 18 |
Note.— Diagnosis of SRS was made on the basis of the most typical characteristics listed. The frequencies of characteristics noted in SRS are from reports by Escobar et al. (1978), Wollmann et al. (1995), and Price et al. (1999). Features vary extensively between patients, and no unambiguous criteria have been set for the diagnosis.
+ = Present; − = absent.