Facial finding | This report (n=5) | Sandhaus et al3 (n=1) | Koslowski and Nelson4 (n=1*) | Habboub and Thneibet5 (n=1) | Azouz and Koslowski6 (n=1) |
---|---|---|---|---|---|
+ present; − absent. | |||||
*Two patients were reported in this paper, but clinical findings were only available in one (patient 1) and it is the findings in this patient that are summarised here. | |||||
Broad/depressed nasal bridge | 5 | − | + | − | − |
Micrognathia/retrognathia | 5 | − | + | − | + |
Epicanthic folds | 5 | − | + | − | − |
Relative macrocephaly | 5 | − | − | − | + |
Long/prominent philtrum | 5 | − | + | − | + |
Low set ears | 3 | − | + | − | + |
High/cleft palate | 3 | + | + | + | + |
Anteverted, flared nares | 2 | − | + | − | − |
Synophrys | 1 | − | + | − | − |