An autosomal dominant condition (OMIM:168500) characterised by large oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated at the 5th fetal month.
Molecular pathology Defects of:
• MSX2—which encodes a transcription repressor that ensures a balance between survival and apoptosis of neural crest-derived cells required for craniofacial morphogenesis, that also plays a role in limb-pattern formation, cause parietal foramina 1 (PF1).
• ALX4—which encodes a homeodomain transcription factor that may play a role in craniofacial development, cause PF2.
Synonyms Catlin marks, foramina parietalia permagna, PF—symmetric, PFM
image from European Journal of Human Genetics (2006) 14, 151–158. doi:10.1038/sj.ejhg.5201526