Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
More than 25% of HPE patients have a microform.
Features observed in microforms consist of microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis as well as a single median maxillary incisor (see this term). Cases are usually identified in relatives of patients with clinically significant forms of HPE. Significant clinical variability and genetic complexity underlie HPE.
Last update: November 2011
- Dr Sandra MERCIER
- Pr Sylvie ODENT