Enlarged parietal foramina
Última actualización 18 Aug 2020
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Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterised by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.
Descripción
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterised by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.
The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.
There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Catlin marks
Cranium bifidum
Cranium bifidum occultum
Fenestrae parietals symmetricae
Foramina parietalia permagna
FPP
Giant parietal foramina
Hereditary cranium bifidum
Parietal foramina
PFM
Symmetric parietal foramina
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Lecturas adicionales y referencias
- Enlarged parietal foramina; MedlinePlus, National Library of Medicine.
- Edwards LS, Sachs JR, Elster AD. Skull fractures through parietal foramina: report of two cases. J Comput Assist Tomogr. 2012 May-Jun;36(3):308-9. doi: 10.1097/RCT.0b013e31824d9331.
- Fink AM, Maixner W. Enlarged parietal foramina: MR imaging features in the fetus and neonate. AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1379-81.
- Griessenauer CJ, Veith P, Mortazavi MM, Stewart C, Grochowsky A, Loukas M, Tubbs RS. Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst. 2013 Apr;29(4):543-7. doi: 10.1007/s00381-012-1982-7. Epub 2012 Dec 4.
- Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet. 2006 Feb;14(2):151-8. doi: 10.1038/sj.ejhg.5201526.
- Reddy AT, Hedlund GL, Percy AK. Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology. 2000 Mar 14;54(5):1175-8. doi: 10.1212/wnl.54.5.1175.
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