Figure 1

Distribution of HPE subtypes and prevalence of common clinical findings. (a) The distribution of HPE subtypes in the this cohort compared to the International HPE Database and Registry. The distribution of HPE types was similar in the two groups, except for alobar HPE, which was less frequent in this cohort (Fischer’s test, P=<0.0001). (b) Clinical findings in semilobar and alobar HPE versus milder types. Severe neurodevelopmental disabilities and strict G-tube feeding were more common in individuals with semilobar or alobar HPE than in individuals with milder HPE types (Fischer’s test P=0.0001 and 0.009 respectively). Severe=nonambulatory, limited hand function, and nonverbal. Intermediate=intermediate motor disabilities with basic verbal communication. Mild=minor motor disabilities and verbal communication at a preschool level or above. DDAVP, desmopressin; DI, diabetes insipidus; HPE, holoprosencephaly; MIH, middle interhemispheric; VP, ventriculoperitoneal. Stars indicate that the difference between the two groups is statistically significant.