Abstract
Purpose
Foramina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described.
Methods
We report two cases of foramina parietal permagna with their pedigrees and genetic analysis.
Results
In case 1, cytogenetic analysis revealed a mutation of the ALX4 gene and all of the members of the family diagnosed with FPP. MRI revealed inferior vermian cerebellar hypoplasia. Surgery was not considered. In case 2, cytogenetic analysis could not be obtained because of financial reasons. Cranial MRI revealed hypoplastic right transverse sinus and sigmoid sinus, with a persistent parafalcine sinus. Surgery was not considered.
Conclusion
Despite of its rarity, genetic background and some important associated anomalies make foramina parietalia permagna more than an uncommon insignificant genetic disorder.
Similar content being viewed by others
References
Reddy AT, Hedlund GL, Percy AK (2000) Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology 54:1175–1178
Valente M, Valente KD, Sugayama SS, Kim CA (2004) Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. AJNR Am J Neuroradiol 25:1836–1839
Pang D, Lin A (1982) Symptomatic large parietal foramina. Neurosurgery 11:33–37
Kortesis B, Richards T, David L, Glazier S, Argenta L (2003) Surgical management of foramina parietalia permagna. The Journal of craniofacial surgery 14:538–544
Greig DM (1892) Congenital and symmetrical perforation of both parietal bones. J Anat Physiol 26:187–191
Dharwal K (2012) Foramina parietalia permagna: the ins and outs. Folia Morphol (Warsz) 71:78–81
Meschan I (1959) An atlas of normal radiographic anatomy. W.B. Saunders Co, Philadelphia
O'Rahilly R, Twohig MJ (1952) Foramina parietalia permagna. Am J Roentgenol Radium Therapy, Nucl Med 67:551–561
Fink AM, Maixner W (2006) Enlarged parietal foramina: MR imaging features in the fetus and neonate. AJNR Am J Neuroradiol 27:1379–1381
Kaplan SB, Kemp SS, Oh KS (1991) Radiographic manifestations of congenital anomalies of the skull. Radiol Clin N Am 29:195–218
Hollender L (1967) Enlarged parietal foramina. Oral surgery, oral medicine, and oral pathology 23:447–453
Boyd GI (1930) The emissary foramina of the cranium in man and the anthropoids. J Anat 65:108–121
Lodge T (1975) Developmental defects in the cranial vault. Br J Radiol 48:421–434
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W (2000) The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 37:916–920
Jeffery N (2002) Differential regional brain growth and rotation of the prenatal human tentorium cerebelli. J Anat 200:135–144
Aoyagi M, Matsushima Y, Takei H, Okada K, Inaba Y (1985) Parietal foramina complicated by meningocele. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1:234–237
Agarwal P, Pandey M, Baranwal S, Roy K (2015) Large midline persistent parietal foramina with occipital encephalocele and abnormal venous drainage. Journal of Cleft Lip Palate and Craniofacial Anomalies 2:66–69
Otsubo Y, Sato H, Sato N, Ito H (1999) Cephaloceles and abnormal venous drainage. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 15:329–332
Meijlink F, Beverdam A, Brouwer A, Oosterveen TC, Berge DT (1999) Vertebrate aristaless-related genes. The International journal of developmental biology 43:651–663
Alappat S, Zhang ZY, Chen YP (2003) Msx homeobox gene family and craniofacial development. Cell Res 13:429–442
Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM (2004) Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation. J Anat 204:487–499
Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO (2006) Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. European journal of human genetics : EJHG 14:151–158
Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O (2004) Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. European journal of human genetics : EJHG 12:400–406
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ (1996) Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet 58:734–742
Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W (2000) Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9:1251–1255
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr (2000) Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24:387–390
Thompson EM, Baraitser M, Hayward RD (1984) Parietal foramina in Saethre-Chotzen syndrome. J Med Genet 21:369–372
Perlyn CA, Schmelzer R, Govier D, Marsh JL (2005) Congenital scalp and calvarial deficiencies: principles for classification and surgical management. Plast Reconstr Surg 115:1129–1141
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Declaration of conflict of interest
None.
Rights and permissions
About this article
Cite this article
Gabor, L., Canaz, H., Canaz, G. et al. Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature. Childs Nerv Syst 33, 853–857 (2017). https://doi.org/10.1007/s00381-016-3315-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-016-3315-8