Enlarged parietal foramina
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Sign InDescription
Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by Spruijt et al., 2005). Genetic Heterogeneity of Parietal Foramina See also PFM2 (609597) and the 11p11.2 deletion syndrome (601224), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene (605420) on chromosome 11p. A third locus for PFM (PFM3; 609566) has been mapped to chromosome 4q21-q23.
Mode of Inheritance
VARIANTS
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