Page 39 - SONO 260 The Fetal Head and Brain
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CEREBRAL MALFORMATIONS HOLOPROSENCEPHALY
Cyclopia, a condition in which the orbits are fused and contain a single eye, and proboscis, a false nose situated above the orbits, are two of the most disturbing external findings associated with holoprosencephaly.
Other facial anomalies such as anophthalmia, hypotelorism, median cleft lip, and cebocephaly may be detected during a fetal sonogram as well.
With the less devastating forms of holoprosencephaly, such as lobar, there are varying degrees of fusion of the midline structures. Infants with lobar holoprosencephaly may experience severe mental retardation.
Trisomy 13, or Patau syndrome, is present in 50 to 70% of fetuses diagnosed with holoprosencephaly.
