Holoprosencephaly Differential Diagnoses

Updated: Sep 07, 2017
  • Author: Jay Desai, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Diagnostic Considerations

Absent olfactory bulbs and tracts are commonly associated with holoprosencephaly, the reason why holoprosencephaly was previously but erroneously called arrhinencephaly. [2]

A dorsal cyst is commonly present and correlates strongly with the presence of unseparated thalami and hydrocephalus. [91]

Neuronal migration anomalies, Chiari malformations, circle of Willis abnormalities, Dandy-Walker malformations, absence of lateral and third ventricles, neural tube defects, rhombencephalosynapsis (fused cerebelli and dentate nuclei with vermian hypoplasia or agenesis), encephalocele, and caudal dysgenesis have been associated with but are not specific to holoprosencephaly. [54, 65, 92, 93, 94, 95, 96, 97, 98]

Differential Diagnoses

  • Septo-optic dysplasia