TY - JOUR AU - de Die‐Smulders, Christine AB -
To the Editor:
Foramina parietalia permagna (FPP; OMIM, 168500), also called parietal foramina, Catlin marks, or fenestrae parietale are symmetrical, 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. Small parietal foramina are common variants occurring in up to 60–70% of the population. Large parietal foramina measuring several centimeters in diameter are less common. The incidence of these skull defects is one in 15,000–25,000 [Lodge, 1975 ; Kortesis et al., 2003 ]. In newborn children, the defect presents as a single large posterior osseous defect, which decreases in size through midsagittal bridging during childhood, creating the bilateral symmetrical foramina. In many cases, however, closure remains incomplete. FPP are usually asymptomatic but may be associated with headache, scalp defects, myelomeningoceles, encephaloceles, and structural or vascular malformations of the brain [Pang and Lin, 1982 ; Aoyagi et al., 1985 ; Jabs et al., 1993 ; Preis et al., 1995 ; Reddy et al., 2000 ]. FPP are usually occurring as an isolated autosomal dominant trait with considerable interfamilial clinical variability (OMIM168500). At present two FPP causing genes, MSX2 on chromosome 5q35 [Wilkie et al., TI - A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP) JO - American Journal of Medical Genetics Part A DO - 10.1002/ajmg.a.30923 DA - 2006-03-15 UR - https://www.deepdyve.com/lp/wiley/a-novel-mutation-in-the-msx2-gene-in-a-family-with-foramina-parietalia-AzIuKfa000 SP - 45 EP - 47 VL - 139A IS - 1 DP - DeepDyve ER -