Foramina parietalia permagna: Case report

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Foramina parietalia permagna: the ins and outs.

Foramina parietalia permagna or enlarged parietal foramina are a rare variant estimated to be less than 1 in 25,000 cases. Out of 150 dry macerated skulls studied one skull showed 2 large parietal foramina measuring 17.38 x 27.67 mm (right) and 15.31 x 25.46 mm (left) in size. Between them, across the sagittal suture, was a transverse communicating suture interrupted by 3 very small wormia...

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Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Foramina parietalia permagna (FPP) is an autosomal dominant condition characterized by cranial defects of the parietal bones. It can be present as an isolated feature, but it is also one of the characteristics of a contiguous gene syndrome associated with deletions on chromosome 11p11-p12. One of the proteins known to be involved in skull development is the MSX2 homeobox protein. Previously, MS...

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The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

Foramina parietalia permagna (FPP) (OMIM 168500) is caused by ossification defects in the parietal bones. Recently, it was shown that loss of function mutations in the MSX2 homeobox gene on chromosome 5 are responsible for the presence of these lesions in some FPP patients. However, the absence of MSX2 mutations in some of the FPP patients analysed and the presence of FPP associated with chromo...

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ژورنال

عنوان ژورنال: Srpski arhiv za celokupno lekarstvo

سال: 2012

ISSN: 0370-8179,2406-0895

DOI: 10.2298/sarh1210658n