Table 2 Summary of clinical features of the proband and the six patients reviewed in Table 1
Clinical features of the present case | No. of reported cases in the literature |
|---|---|
Newborn respiratory distress | 5 |
Wide fontanelle | 4 |
Prominent occiput | 1 |
Asymmetric skull | 1 |
High forehead | 3 |
Triangular face | 1 |
Hypertelorism | 5 |
Down slanting eyes | 4 |
Flat/wide nasal bridge | 5 |
Low set ears | 5 |
Small/short nose | 4 |
Micro-retrognathia | 6 |
High arched palate | 2 |
Short neck | 5 |
Skeletal anomalies | 2 |
CNS malformations | 4 |
Psychomotor retardation | 2a |