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Congenital syndrome consisting of symmetrical bony skull defects.

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Parietal Foramina (Per-)Magna; Cranium Bifidum; 11p11.2 Deletion Syndrome.

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It was W.M. Goldsmith in 1922 who chose the name Catlin Marks for this disorder because he observed this defect in several generations of a family named Catlin.

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While small parietal foramina are found in up to 70% of the population, large parietal foramina with a diameter of several centimeters are estimated to affect 1:15000-20000 live births.

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Autosomal dominant. The genetic defect has been mapped to 11p11.2, 5q34.q35.

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Parietal foramina are caused by either mutations of the MSX2 gene (PFM-1, Parietal Foramina Magna gene 1; 5q34.q35) or by haploinsufficiency of the ALX4 gene (PFM-2; 11p11.2). These mutations will result in abnormal ossification of the membranous calvarium.

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Frequently asymptomatic. Patients have symmetrical oval defects of the parietal bone.

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Considerable variation among and within families suffering from the condition. Circumscribed scalp aplasia, seizures, cleft lip and palate, and spina bifida occulta (cervical and lumbosacral) have been described. Cranium bifidum consists of wide fontanelles (anterior and posterior), which persist into childhood. The fontanelles tend to close in mid-childhood but may leave residual frontal or parietal foramina. Cranium bifidum may be associated with encephaloceles and structural vascular malformations of the brain.

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If central neuraxial anesthesia is planned, spinal radiographs and/or magnetic resonance imaging should be considered preoperatively given the possibility of spina bifida occulta.

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Spina bifida occulta may increase the incidence of complications after central neuraxial anesthesia. Avoid anesthetic agents that lower the seizure threshold. Chronic antiseizure medication may alter the metabolism of some anesthetic agents.

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Acrocephalosyndactyly Syndrome Type III (Saethre-Chotzen Syndrome): Craniosynostosis with low frontal hairline, ptosis, and brachydactyly and cutaneous syndactyly of the fingers and of the second and third toes. Cranial abnormalities are variable. Other features may include cleft palate, hydrophthalmos, cardiac malformations, and contractures of the elbows and knees.

Chrzanowska K, Kozlowski K, Kowalska A: Syndromic foramina parietalia permagna. Am J Med Genet 6:401, 1998.
Spruijt L, Verdyck P, van Hul W, et al: A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). Am J Med Genet A 139A:45, 2005.
Wuyts W, Cleiren E, Homfray T, et al: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 37:916, 2000.  [PubMed: 11106354]

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