What is the life expectancy of someone with holoprosencephaly?

Developmental delay is present in the majority of individuals with the HPE spectrum. Severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months and many live into adulthood.

What is Alobar and Semilobar holoprosencephaly?

There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain’s hemispheres have somewhat divided, causes an intermediate form of the disorder.

How common is Semilobar holoprosencephaly?

The incidence of holoprosencephaly has been estimated at 1 in 250 during early embryonic development, and approximately 1 in 16,000 live births.

How to diagnose semilobar holoprosencephaly in Radiology Reference Article?

Semilobar holoprosencephaly 1 Epidemiology. Please refer to the general article of holoprosencephaly. 2 Clinical presentation. In contrast to alobar holoprosencephaly, facial malformations are usually mild or absent 5. 3 Pathology. 4 Radiographic features. 5 Differential diagnosis

What is the prognosis for lobar holoprosencephaly?

For more details see the article on lobar holoprosencephaly. The prognosis is dependent on the type of HPE with almost all alobar and semilobar forms incompatible with extrauterine life. There may be recurrence risk for ~6% with non-chromosomal sporadic HPE.

How are facial malformations different from alobar holoprosencephaly?

In contrast to alobar holoprosencephaly, facial malformations are usually mild or absent 5. As with all types of holoprosencephaly, it is a rare congenital brain malformation in which there is failure of complete separation of the two hemispheres and failure of transverse cleavage into diencephalon and telencephalon.

Where are the thalami located in alobar holoprosencephaly?

Alobar holoprosencephaly. In alobar holoprosencephaly, the thalami are fused and there is a single large posteriorly located ventricle. Most commonly associated with facial abnormalities such as cyclopia, ethmocephaly, cebocephaly, and median cleft lip.