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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]