Table 4 Reported* phenotypic findings (n = 91)
FindingPrevalence (%)
Craniofacial anomalies
    Hypotelorism44.0
    Microcephaly36.3
    Cleft lip and/or palate35.2
    Flat nasal bridge/absent nasal septum17.6
    Philtral agenesis/hypoplasia13.2
    Coloboma9.9
    Solitary maxillary central incisor8.8
    Cyclopia6.6

  • *It is likely that many of these findings, such as hypotelorism, occur more often than was reported.