Associated disorders of Chiari Type I malformations: a review

Marios Loukas M.D., Ph.D. 1 , Brian J. Shayota B.S. 1 , Kim Oelhafen B.S. 1 , Joseph H. Miller M.D. 2 , 3 , Joshua J. Chern M.D., Ph.D. 2 , R. Shane Tubbs M.S., P.A.-C., Ph.D. 2 , and W. Jerry Oakes M.D. 2
View More View Less
  • 1 Department of Anatomical Sciences, St. George's University, Grenada;
  • 2 Pediatric Neurosurgery, Children's Hospital; and
  • 3 Division of Neurosurgery, University of Alabama at Birmingham, Alabama
Full access

A single pathophysiological mechanism of Chiari Type I malformations (CM-I) has been a topic of debate. To help better understand CM-I, the authors review disorders known to be associated with CM-I. The primary methodology found among most of them is deformation of the posterior cranial fossa, usually with subsequent decrease in volume. Other mechanisms exist as well, which can be categorized as either congenital or acquired. In understanding the relationship of such disorders with CM-I, we may gain further insight into the process by which cerebellar tonsillar herniation occurs. Some of these pathologies appear to be true associations, but many appear to be spurious.

Abbreviations used in this paper: CHERI = CM-I with or without cleft palate, deviant electroencephalography or epilepsy, and retarded intelligence with delayed language development; CM-I = Chiari malformation Type I.

A single pathophysiological mechanism of Chiari Type I malformations (CM-I) has been a topic of debate. To help better understand CM-I, the authors review disorders known to be associated with CM-I. The primary methodology found among most of them is deformation of the posterior cranial fossa, usually with subsequent decrease in volume. Other mechanisms exist as well, which can be categorized as either congenital or acquired. In understanding the relationship of such disorders with CM-I, we may gain further insight into the process by which cerebellar tonsillar herniation occurs. Some of these pathologies appear to be true associations, but many appear to be spurious.

Abbreviations used in this paper: CHERI = CM-I with or without cleft palate, deviant electroencephalography or epilepsy, and retarded intelligence with delayed language development; CM-I = Chiari malformation Type I.

In the late 19th century, Hans Chiari7 discovered and classified 3 types of rhombencephalic congenital anomalies that would later be termed Chiari malformation Types I, II, and III. Dr. Chiari postulated that the cerebellar herniation might have been due to hydrocephalus with the 3 different types representing various degrees of disease progression.31 In the ensuing years, Chiari's mechanism of pathogenesis would be disproven as the primary cause of CM-I. Among the classifications, however, no current consensus exists for the exact pathogenesis or treatment regimen for all.67 Many have formed theories such as the hindbrain dysgenesis and developmental arrest theory, caudal traction theory, small posterior fossa/hindbrain overgrowth theory, hydrocephalus and hydrodynamic theory of Gardner, and the lack of embryological ventricular distention theory, yet no single theory has been able to prove a single pathway in the pathogenesis of CM-I.3,12,15,30,34,36,40,42,43,47,55,70,75 This article, however, will not review each of those theories. Instead, it intends to document the conditions associated with CM-I to potentially provide insight into how the pathophysiological mechanism of one condition, no matter how remote, might lead to the development of CM-I. Many of these associations are summarized in Table 1. It should also be noted that many of these associations may be incidental; an asymptomatic hindbrain hernia has been identified due to testing for other pathological entities (such as endocrinopathies).

TABLE 1:

Disorders associated with CM-I

craniosynostosis
 Antley-Bixler syndrome
 Apert syndrome
 Crouzon syndrome
 Jackson-Weiss syndrome
 Kleeblattschädel syndrome
 Loeys-Dietz syndrome Type I
 Seckel syndrome
 Shprintzen-Goldberg syndrome
endocrinology
 achondroplasia
 acromegaly
 growth hormone deficiency
hyperostosis
 craniometaphyseal dysplasia
 erythroid hyperplasia
 osteopetrosis
 Paget disease
bone mineral deficiency
 familial vitamin D–resistant rickets
cutaneous disorders
 acanthosis nigricans
 blue rubber bleb nevus syndrome
 giant congenital melanocytic nevi
 LEOPARD syndrome
 macrocephaly-cutis marmorata telangiectatica congenita
 neurofibromatosis Type I
 phacomatosis pigmentovascularis Type II
 Waardenburg syndrome
spinal defects
 atlantoaxial assimilation
 basilar impression
 caudal regression syndrome
 Klippel-Feil syndrome
 lipomeningomyelocele
 odontoid retroflexion
 spondyloepiphyseal dysplasia
space-occupying lesions
other
 Beckwith-Wiedemann syndrome
 CHERI
 cloacal exstrophy
 Costello syndrome
 cystic fibrosis
 Ehlers-Danlos syndrome
 Fabry disease
 Kabuki syndrome
 Pierre-Robin syndrome
 situs inversus
 Williams-Beuren syndrome

Pathophysiology

Morphometric studies by Schady et al.59 and Milhorat et al.36 have provided evidence that the volume of the posterior cranial fossa in patients with CM-I was 23% less than controls. Furthermore, Badie and colleagues3 discovered the ratio of posterior fossa volume to supratentorial space was significantly lower in symptomatic CM-I patients compared with control patients. Marin-Padilla and Marin-Padilla32 added to the understanding of this anatomical pathology by inducing underdevelopment of the basiocciput and posterior fossa in hamsters through high doses of vitamin A. In doing so, these authors demonstrated how impairing posterior fossa development could induce caudal displacement of the cerebellum. Others, however, have challenged this proposition with studies showing no difference in posterior fossa volume.79 Additional morphological findings in CM-I may include an underdeveloped supraocciput and exocciput, large foramen magnum, short clivus, and longer anterior cranial fossa.44,62,80 Therefore, while it may be a common school of thought, a smaller posterior fossa does not necessarily lead to CM-I.

Hydrocephalus

Hans Chiari's aforementioned original theory regarding the causative association between hydrocephalus and hindbrain herniation has not allowed for an all-encompassing explanation into the pathophysiology of CM-I. Nonetheless, hydrocephalus is noted in approximately 4%–18% of patients with CM-I.3,70 Tubbs et al.,65 in a review of 500 patients with CM-I treated between 1989 and 2010, demonstrated that 9.8% of patients had concomitant hydrocephalus. These patients all required CSF diversion in addition to an operative posterior fossa decompression. This association is likely secondary to fourth ventricular outflow tract obstruction or concurrent aqueductal stenosis. As a result, endoscopic third ventriculostomy has been used with success in this patient population.

Craniosynostosis

Craniosynostosis and CM-I is a well-documented association first noted by Saldino et al.,58 in which certain patients will have abnormalities in the skull base with subsequent decreased posterior fossa volume and tonsillar herniation. More specifically, this most often occurs when the lambdoid sutures fuse too early in skull development, which is representative of 1% of all types of craniosynostosis.21 Synostosis can exist solitarily or as part of a syndrome such as Crouzon (72.7%), Apert (1.9%), Pfeiffer (50%), and Kleeblattschädel syndromes (100%).8,9 Additional studies estimated the Crouzon syndrome association to be as high as 70%.63 Moreover, CM-I is now believed to be associated with Pfeiffer Type II,50 Jackson-Weiss,46 Seckel,22 Antley-Bixler,6 and Shprintzen-Goldberg syndromes17 as well. In each of these associated syndromes, CM-I is not present at birth because the lambdoid suture has not yet fused. The incidence and severity, however, has been correlated to the time of closure.24,54 Therefore, the higher incidence of CM-I in patients with Crouzon syndrome can be explained by the timing of fusion of involved sutures as compared with Apert syndrome.8 Normally, the skull continues to expand along with brain growth until the age of 16 years.37

Although lambdoid synostosis is the most common type of craniosynostosis to be associated with CM-I, evidence of additional premature suture closures leading to CM-I is growing. In utero synostosis of the sagittal and coronal sutures, for example, can force neural growth posteriorly and inferiorly as is present in the association with Loeys-Dietz syndrome.57 As a result, the attachment of the tentorium cerebelli is displaced toward the foramen magnum with subsequent reduction in posterior fossa size and development of CM-I.9 Additionally, Tubbs et al.66 reported a 30% incidence of CM-I associated with simple metopic ridging without signs of trigonocephaly; Tubbs et al.65 hypothesized that this was the result of a decrease in anterior cranial fossa volume.

Endocrinopathy

Reduced posterior fossa volume is also observed in other medical conditions, including those involved in cell signaling. For example, growth hormone deficiency has been linked to CM-I in 5%–20% of patients with growth hormone deficiency.20,77 This endocrine deficiency in children is believed to be a physiological mechanism for insufficient development of the posterior fossa with resultant tonsillar herniation.78 While the posterior fossa volume of patients with growth hormone deficiency has not been found to be significantly smaller, research has shown certain bone structures to be underdeveloped, similar to those commonly noted in patients with CM-I.78 Additionally, somatotropin replacement therapy in patients with growth hormone deficiency and CM-I has resulted in improvement of tonsillar herniation with stabilization in syrinx size in some patients.80 Conclusive evidence, however, of the pathophysiological mechanism and possible treatments has yet to be determined.

Acromegaly has also been implicated as an endocrine-related disorder causing CM-I, which also fits in the category of hyperostosis (excessive bone growth). In this scenario, an excessive amount of growth hormone is believed to thicken the bones of the posterior fossa, resulting in CM-I. Chiari Type I malformation has also been observed in patients with achondroplasia because of the small, shallow posterior cranial fossa present in these patients.38

Hyperostosis

When hyperostosis affects the posterior fossa, it can often lead to CM-I. Paget disease of the skull is one example in which exaggerated bone turnover leads to thickening and deformation of bones. When this process takes place in the skull, it can compromise the posterior fossa and in a few cases has been reported to result in CM-I. Both Iglesias-Osma et al.23 and Richards et al.53 have described cases of this association but few others have been reported.

Cases of CM-I relating to craniometaphyseal dysplasia are also exceedingly rare, but have nonetheless been noted in the past. Craniometaphyseal dysplasia, similar to the other types of hyperostosis, can manifest with CM-I due to abnormal bone formation and progressive thickening. Of the few cases, Sewell and colleagues61 documented cervicomedullary compression as well. Chiari Type I malformation secondary to osteopetrosis26 and erythroid hyperplasia51 have been documented but are also considered to be exceptionally rare.

Bone Mineral Deficiency

In regard to bone mineral deficiencies, patients with familial vitamin D–resistant rickets have a higher incidence of CM-I,5 believed to be due to overcrowding of the posterior fossa. In this condition, bone overgrowths and calvarial thickening as a result of low serum phosphate has been proposed to be the attributing factor. Further studies, however, have not found a difference in rachitic patients' posterior fossa volumes, and thus the pathophysiological mechanism remains unknown.74 Kuether and Piatt25 suggested in a case study that CM-I development from rickets is due to foramen magnum stenosis. Interestingly, Renier et al.52 discovered that among 129 patients with oxycephaly, 15% suffered from rickets.

Cutaneous Disorders

Although it may not be considered a traditional association, cutaneous disorders are frequently reported to occur in conjunction with CM-I. One such disorder is neurofibromatosis Type I, in which a relationship as high as 8% has been reported.71 Some investigators have hypothesized that mesodermal deficiency arrests posterior cranial fossa development, which is also proposed to occur in cutaneous disorders such as neurofibromatosis Type I.36

Equally mysterious is the association of CM-I with macrocephaly-cutis marmorata telangiectatica congenita,73 which is characterized by benign spider nevuslike telangiectasias and superficial ulcerations, but little is known about the pathology. Hence, no mechanism has been suggested for the association.

Several other cutaneous disorders have been suggested as having an association with CM-I, including LEOPARD syndrome,1 blue rubber bleb nevus syndrome,27 giant congenital melanocytic nevi,14 phacomatosis pigmentovascularis Type II,11 acanthosis nigricans,33 and Waardenburg syndrome variants.41 These associations are all based on rare case reports and thus may have occurred coincidentally with CM-I.

Spinal Defects

Not all causes of CM-I have been shown to be directly related to the posterior fossa and skull base. A few disorders, such as spondyloepiphyseal dysplasia,18 caudal regression syndrome,68,69 Klippel-Feil syndrome, atlantoaxial assimilation, basilar impression, and odontoid retroflexion (in which the vertebral column is the site of deformation) are also associated with CM-I. Little is known about the pathophysiology of these spinal deformities, but it is believed that difficulty in equilibrating the dynamic CSF pulse pressure induced by the Valsalva maneuver is responsible for the CM-I presentation.

Lipomeningomyelocele has also proven to be coupled with CM-I in as many as 3%–6% of patients.2,4 It has been postulated that a decrease in intracranial nervous tissue and CSF due to the lipomeningomyelocele removes the expansile pressure of the brain on the skull, thus causing the posterior fossa to be smaller and less developed.76

Space-Occupying Lesions

To this point, all disorders mentioned in association with CM-I have been congenital, but acquired methods of CM-I manifestation exist as well. This category includes both space-occupying lesions and CSF leaks. Space-occupying lesions within the posterior cranial fossa can be caused by a variety of disorders, ranging from brain tumors to hematomas. These can include supratentorial45 and infratentorial64 lesions. The multitude of potential spaceoccupying lesions is vast and thus beyond the scope of this review.

Not Otherwise Specified

A case of Beckwith-Wiedemann syndrome in association with CM-I has been reported. Tubbs and Oakes68 hypothesized that the pathological mechanism responsible for the CM-I was hemihypertrophy involvement of the skull. Beckwith-Wiedemann in combination with CM-I, however, is exceedingly rare as no other case reports could be found. Costello syndrome has also been recognized as presenting with concomitant CM-I, although it, too, is described as having a low frequency association.64 Both hemihypertrophy56 and growth hormone deficiency29 have been reported in patients with Costello syndrome and CM-I; therefore, there may be a common pathogenesis. Furthermore, an association of Marfan syndrome with CM-I is commonly recognized due to intracranial hypotension.49 Additionally, associations with Williams-Beuren syndrome have been found with morphometric analyses suggesting a diminished posterior fossa leading to CM-I.13,48 Finally, associations with disorders such as cystic fibrosis,39 Pierre-Robin syndrome,28 Ehlers-Danlos syndrome,35 Fabry disease,16 Kabuki syndrome,10 situs inversus,60 CHERI,19 and cloacal exstrophy72 have been made with no clear pathophysiological mechanism yet identified.

Conclusions

There exists a plethora of diseases affiliated with CM-I, many of which have been mentioned in this article and certainly more to be discovered in the future. While the final outcome of CM-I may be the same, the strength of the correlation and pathophysiological mechanisms of each differs greatly and some may be spurious associations. Thus, the need for additional genetic research and investigation of CM-I continues.

Disclosure

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Author contributions to the study and manuscript preparation include the following. Conception and design: Tubbs, Oakes. Acquisition of data: Tubbs, Loukas, Shayota, Oelhafen. Analysis and interpretation of data: Tubbs, Miller, Oakes. Drafting the article: Tubbs, Loukas, Miller. Critically revising the article: Tubbs, Shayota, Oelhafen, Chern. Reviewed submitted version of manuscript: Tubbs, Loukas, Chern, Miller, Oakes. Approved the final version of the manuscript on behalf of all authors: Tubbs.

References

  • 1

    Agha A, & Hashimoto K: Multiple lentigines (Leopard) syndrome with Chiari I malformation. J Dermatol 22:520523, 1995

  • 2

    Aguilera Grijalvo C, , Bank WO, , Balériaux D, , Matos C, , Imana FJ, & Szliwowski HB, : Lipomyeloschisis associated with thoracic syringomyelia and Chiari I malformation. Neuroradiology 35:375377, 1993

    • Search Google Scholar
    • Export Citation
  • 3

    Badie B, , Mendoza D, & Batzdorf U: Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation. Neurosurgery 37:214218, 1995

    • Search Google Scholar
    • Export Citation
  • 4

    Byrne RW, , Hayes EA, , George TM, & McLone DG: Operative resection of 100 spinal lipomas in infants less than 1 year of age. Pediatr Neurosurg 23:182187, 1995

    • Search Google Scholar
    • Export Citation
  • 5

    Caldemeyer KS, , Boaz JC, , Wappner RS, , Moran CC, , Smith RR, & Quets JP: Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology 195:733738, 1995

    • Search Google Scholar
    • Export Citation
  • 6

    Chang YT, , Tsai FJ, , Shen WC, , Lin HC, , Peng CT, & Tsai CH: Antley-Bixler syndrome associated with Arnold-Chiari malformation. Acta Paediatr 89:737739, 2000

    • Search Google Scholar
    • Export Citation
  • 7

    Chiari H: Veranderungen des kleinhirns infolge von hydrocephaliedes grosshirns. Deutsche Medicinische Wochenschrigt 17:11721175, 1891

    • Search Google Scholar
    • Export Citation
  • 8

    Cinalli G, , Renier D, , Sebag G, , Sainte-Rose C, , Arnaud E, & Pierre-Kahn A: Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575582, 1995

    • Search Google Scholar
    • Export Citation
  • 9

    Cinalli G, , Spennato P, , Sainte-Rose C, , Arnaud E, , Aliberti F, & Brunelle F, : Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889901, 2005

    • Search Google Scholar
    • Export Citation
  • 10

    Ciprero KL, , Clayton-Smith J, , Donnai D, , Zimmerman RA, , Zackai EH, & Ming JE: Symptomatic Chiari I malformation in Kabuki syndrome. Am J Med Genet A 132A:273275, 2005

    • Search Google Scholar
    • Export Citation
  • 11

    Du LC, , Delaporte E, , Catteau B, , Destee A, & Piette F: Phacomatosis pigmentovascularis type II. Eur J Dermatol 8:569572, 1998

  • 12

    Elster AD, & Chen MY: Chiari I malformations: clinical and radiologic reappraisal. Radiology 183:347353, 1992

  • 13

    Ferrero GB, , Biamino E, , Sorasio L, , Banaudi E, , Peruzzi L, & Forzano S, : Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet 50:327337, 2007

    • Search Google Scholar
    • Export Citation
  • 14

    Frieden IJ, , Williams ML, & Barkovich AJ: Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 31:423429, 1994

    • Search Google Scholar
    • Export Citation
  • 15

    Gardner WJ: Hydrodynamic mechanism of syringomyelia: its relationship to myelocele. J Neurol Neurosurg Psychiatry 28:247259, 1965

  • 16

    Germain DP, , Benistan K, & Halimi P: Chiari type I malformation in four unrelated patients affected with Fabry disease. Eur J Med Genet 49:419425, 2006

    • Search Google Scholar
    • Export Citation
  • 17

    Greally MT, , Carey JC, , Milewicz DM, , Hudgins L, , Goldberg RB, & Shprintzen RJ, : Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 76:202212, 1998

    • Search Google Scholar
    • Export Citation
  • 18

    Gripp KW, , Scott CI Jr, , Nicholson L, , Magram G, & Grissom LE: Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda. Skeletal Radiol 26:131133, 1997

    • Search Google Scholar
    • Export Citation
  • 19

    Haapanen ML: CHERI: time to identify the syndrome?. J Craniofac Surg 18:369373, 2007

  • 20

    Hamilton J, , Chitayat D, , Blaser S, , Cohen LE, , Phillips JA III, & Daneman D: Familial growth hormone deficiency associated with MRI abnormalities. Am J Med Genet 80:128132, 1998

    • Search Google Scholar
    • Export Citation
  • 21

    Harwood-Nash DC, Coronal synostosis. Rogers LF: Disorders of the Head and Neck Syllabus, Second Series Reston, VA, American College of Radiology, 1977. 340353

    • Search Google Scholar
    • Export Citation
  • 22

    Hopkins TE, & Haines SJ: Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. J Neurosurg 98:11131115, 2003

    • Search Google Scholar
    • Export Citation
  • 23

    Iglesias-Osma C, , Gómez Sánchez JC, , Suquia Múgica B, , Querol Prieto R, & de Portugal Alvarez J: [Paget's disease of bone and basilar impression associated with an Arnold-Chiari type I malformation.]. An Med Interna 14:519522, 1997. (Span)

    • Search Google Scholar
    • Export Citation
  • 24

    Kreiborg S, , Marsh JL, , Cohen MM Jr, , Liversage M, , Pedersen H, & Skovby F, : Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21:181188, 1993

    • Search Google Scholar
    • Export Citation
  • 25

    Kuether TA, & Piatt JH: Chiari malformation associated with vitamin D-resistant rickets: case report. Neurosurgery 42:11681171, 1998

  • 26

    Kulkarni ML, , Marakkanavar SN, , Sushanth S, , Pradeep N, , Ashok C, & Balaji MD, : Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr 74:412415, 2007

    • Search Google Scholar
    • Export Citation
  • 27

    Kunishige M, , Azuma H, , Masuda K, , Shigekiyo T, , Arii Y, & Kawai H, : Interferon alpha-2a therapy for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome. A case report. Angiology 48:273277, 1997

    • Search Google Scholar
    • Export Citation
  • 28

    Lee J, , Hida K, , Seki T, , Kitamura J, & Iwasaki Y: Pierre-Robin syndrome associated with Chiari type I malformation. Childs Nerv Syst 19:380383, 2003

    • Search Google Scholar
    • Export Citation
  • 29

    Legault L, , Gagnon C, & Lapointe N: Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. J Pediatr 138:151152, 2001

    • Search Google Scholar
    • Export Citation
  • 30

    Levy WJ, , Mason L, & Hahn JF: Chiari malformation presenting in adults: a surgical experience in 127 cases. Neurosurgery 12:377390, 1983

    • Search Google Scholar
    • Export Citation
  • 31

    Loukas M, , Noordeh N, , Shoja MM, , Pugh J, , Oakes WJ, & Tubbs RS: Hans Chiari (1851–1916). Childs Nerv Syst 24:407409, 2008

  • 32

    Marin-Padilla M, & Marin-Padilla TM: Morphogenesis of experimentally induced Arnold–Chiari malformation. J Neurol Sci 50:2955, 1981

  • 33

    Martinez-Perez D, , Vander Woude DL, , Barnes PD, , Scott RM, & Mulliken JB: Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg 25:252255, 1996

    • Search Google Scholar
    • Export Citation
  • 34

    Meadows J, , Kraut M, , Guarnieri M, , Haroun RI, & Carson BS: Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging. J Neurosurg 92:920926, 2000

    • Search Google Scholar
    • Export Citation
  • 35

    Milhorat TH, , Bolognese PA, , Nishikawa M, , McDonnell NB, & Francomano CA: Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine 7:601609, 2007

    • Search Google Scholar
    • Export Citation
  • 36

    Milhorat TH, , Chou MW, , Trinidad EM, , Kula RW, , Mandell M, & Wolpert C, : Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:10051017, 1999

    • Search Google Scholar
    • Export Citation
  • 37

    Moore KL, , Persaud TVN, & Torchia MG: Before We Are Born: Essentials of Embryology and Birth Defects ed 7 Philadelphia, Saunders Elsevier, 2008. 233

    • Search Google Scholar
    • Export Citation
  • 38

    Nakai T, , Asato R, , Miki Y, , Tanaka F, , Matsumoto S, & Konishi J: A case of achondroplasia with downward displacement of the brain stem. Neuroradiology 37:293294, 1995

    • Search Google Scholar
    • Export Citation
  • 39

    Needleman JP, , Panitch HB, , Bierbrauer KS, & Schidlow DV: Chiari type I malformation in children and adolescents with cystic fibrosis. Pediatr Pulmonol 30:490492, 2000

    • Search Google Scholar
    • Export Citation
  • 40

    Nohria V, & Oakes WJ: Chiari I malformation: a review of 43 patients. Pediatr Neurosurg 16:222227

  • 41

    Nye JS, , Hayes EA, , Amendola M, , Vaughn D, , Charrow J, & McLone DG, : Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61:165171, 2000

    • Search Google Scholar
    • Export Citation
  • 42

    Oakes WJ, Chiari malformations, hydromyelia, syringomyelia. Wilkins RH, & Rengachary SS: Neurosurgery ed 2 New York, McGraw-Hill, 1996. 35933616

    • Search Google Scholar
    • Export Citation
  • 43

    Oakes WJ, The Chiari malformations of the child. Menezes AH, & Sonntag VKH: Principles of Spinal Surgery New York, McGraw-Hill, 1996. 1:379394

    • Search Google Scholar
    • Export Citation
  • 44

    Oakes WJ, & Tubbs RS, Chiari malformations. Winn HR: Youmans Neurological Surgery ed 5 Philadelphia, Saunders, 2004. 33473361

  • 45

    Onesti ST, , Ashkenazi E, , Miller AM, & Michelsen WJ: Resolution of acquired tonsillar herniation after resection of supratentorial meningioma. Case illustration. J Neurosurg 86:572, 1997

    • Search Google Scholar
    • Export Citation
  • 46

    Park WJ, , Meyers GA, , Li X, , Theda C, , Day D, & Orlow SJ, : Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:12291233, 1995

    • Search Google Scholar
    • Export Citation
  • 47

    Paul KS, , Lye RH, , Strang FA, & Dutton J: Arnold-Chiari malformation. Review of 71 cases. J Neurosurg 58:183187, 1983

  • 48

    Pober BR, & Filiano JJ: Association of Chiari I malformation and Williams syndrome. Pediatr Neurol 12:8488, 1995

  • 49

    Puget S, , Kondageski C, , Wray A, , Boddaert N, , Roujeau T, & Di Rocco F, : Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report. J Neurosurg 106:1 Suppl 4852, 2007

    • Search Google Scholar
    • Export Citation
  • 50

    Ranger A, , Al-Hayek A, & Matic D: Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. J Craniofac Surg 21:427431, 2010

    • Search Google Scholar
    • Export Citation
  • 51

    Rengachary SS, , Blount J, , Heros D, , Bowers S, & Truwit C: Craniocephalic disproportion with increased intracranial pressure and brain herniation: a new clinical syndrome in anemic patients: report of two cases. Neurosurgery 41:297304, 1997

    • Search Google Scholar
    • Export Citation
  • 52

    Renier D, , Cinalli G, , Lajeunie E, , Arnaud E, & Marchac D: [Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases.]. Arch Pediatr 4:722729, 1997. (Fr)

    • Search Google Scholar
    • Export Citation
  • 53

    Richards PS, , Bargiota A, & Corrall RJ: Paget's disease causing an Arnold-Chiari Type 1 malformation: radiographic findings. AJR Am J Roentgenol 176:816817, 2001

    • Search Google Scholar
    • Export Citation
  • 54

    Richtsmeier JT, & Lele S: Analysis of craniofacial growth in Crouzon syndrome using landmark data. J Craniofac Genet Dev Biol 10:3962, 1990

    • Search Google Scholar
    • Export Citation
  • 55

    Rinaldi F, , Cioffi FA, , Columbano L, , Krasagakis G, & Bernini FP: Tethered cord syndrome. J Neurosurg Sci 49:131135, 2005

  • 56

    Ringrose RE, , Jabbour JT, & Keele DK: Hemihypertrophy. Pediatrics 36:434448, 1965

  • 57

    Rodrigues VJ, , Elsayed S, , Loeys BL, , Dietz HC, & Yousem DM: Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 30:16141619, 2009

    • Search Google Scholar
    • Export Citation
  • 58

    Saldino RM, , Steinbach HL, & Epstein CJ: Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol Radium Ther Nucl Med 116:609622, 1972

    • Search Google Scholar
    • Export Citation
  • 59

    Schady W, , Metcalfe RA, & Butler P: The incidence of craniocervical bony anomalies in the adult Chiari malformation. J Neurol Sci 82:193203, 1987

    • Search Google Scholar
    • Export Citation
  • 60

    Serarslan Y, , Melek IM, , Duman T, , Eraslan T, , Akdemir G, & Yalçin F: The co-occurrence of Chiari type 1 malformation with syringomyelia and total situs inversus. Med Sci Monit 13:CS110CS113, 2007

    • Search Google Scholar
    • Export Citation
  • 61

    Sewell MD, , Akram H, & Wadley J: Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. Br J Neurosurg 22:8385, 2008

    • Search Google Scholar
    • Export Citation
  • 62

    Sgouros S, , Kountouri M, & Natarajan K: Skull base growth in children with Chiari malformation Type I. J Neurosurg 107:3 Suppl 188192, 2007

    • Search Google Scholar
    • Export Citation
  • 63

    Shigeta H, & Sakai K: [Chiari malformation (chronic tonsillar herniation) and syringomyelia in Crouzon's syndrome.]. Nerv Syst Child 21:395401, 1996. (Jpn)

    • Search Google Scholar
    • Export Citation
  • 64

    Tokime T, , Okamoto S, , Yamagata S, & Konishi T: Syringomyelia associated with a posterior fossa cyst. Illustration of two cases. J Neurosurg 86:907, 1997

    • Search Google Scholar
    • Export Citation
  • 65

    Tubbs RS, , Beckman J, , Naftel RP, , Chern JJ, , Wellons JC III, & Rozzelle CJ, : Institutional experience with 500 cases of surgically treated pediatric Chiari malformation Type I. Clinical article. J Neurosurg Pediatr 7:248256, 2011

    • Search Google Scholar
    • Export Citation
  • 66

    Tubbs RS, , Elton S, , Blount JP, & Oakes WJ: Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. Pediatr Neurosurg 35:136139, 2001

    • Search Google Scholar
    • Export Citation
  • 67

    Tubbs RS, , Lyerly MJ, , Loukas M, , Shoja MM, & Oakes WJ: The pediatric Chiari I malformation: a review. Childs Nerv Syst 23:12391250, 2007

  • 68

    Tubbs RS, & Oakes WJ: Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report. J Neurosurg 103:2 Suppl 172174, 2005

    • Search Google Scholar
    • Export Citation
  • 69

    Tubbs RS, & Oakes WJ: Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. Childs Nerv Syst 22:15071508, 2006

    • Search Google Scholar
    • Export Citation
  • 70

    Tubbs RS, & Oakes WJ: Costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association. J Child Neurol 18:496498, 2003

    • Search Google Scholar
    • Export Citation
  • 71

    Tubbs RS, , Rutledge SL, , Kosentka A, , Bartolucci AA, & Oakes WJ: Chiari I malformation and neurofibromatosis type 1. Pediatr Neurol 30:278280, 2004

    • Search Google Scholar
    • Export Citation
  • 72

    Tubbs RS, , Smyth MD, & Oakes WJ: Chiari I malformation and cloacal exstrophy: report of a patient with both defects of blastogenesis. Am J Med Genet A 119A:231233, 2003

    • Search Google Scholar
    • Export Citation
  • 73

    Tubbs RS, , Smyth MD, , Wellons JC, , Blount JP, & Oakes WJ: Cutaneous manifestations and the Chiari I malformation. Pediatr Neurol 29:250252, 2003

    • Search Google Scholar
    • Export Citation
  • 74

    Tubbs RS, , Webb D, , Abdullatif H, , Conklin M, , Doyle S, & Oakes WJ: Posterior cranial fossa volume in patients with rickets: insights into the increased occurrence of Chiari I malformation in metabolic bone disease. Neurosurgery 55:380384, 2004

    • Search Google Scholar
    • Export Citation
  • 75

    Tubbs RS, , Wellons JC III, & Oakes WJ: Asymmetry of tonsillar ectopia in Chiari I malformation. Pediatr Neurosurg 37:199202, 2002

  • 76

    Tubbs RS, , Wellons JC III, & Oakes WJ: Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. Childs Nerv Syst 19:5053, 2003

    • Search Google Scholar
    • Export Citation
  • 77

    Tubbs RS, , Wellons JC III, , Oakes WJ, & Blount JP: Reformation of the posterior atlanto-occipital membrane following posterior fossa decompression with subsequent constriction at the craniocervical junction. Pediatr Neurosurg 38:219221, 2003

    • Search Google Scholar
    • Export Citation
  • 78

    Tubbs RS, , Wellons JC III, , Smyth MD, , Bartolucci AA, , Blount JP, & Oakes WJ, : Children with growth hormone deficiency and Chiari I malformation: a morphometric analysis of the posterior cranial fossa. Pediatr Neurosurg 38:324328, 2003

    • Search Google Scholar
    • Export Citation
  • 79

    Vega A, , Quintana F, & Berciano J: Basichondrocranium anomalies in adult Chiari type I malformation: a morphometric study. J Neurol Sci 99:137145, 1990

    • Search Google Scholar
    • Export Citation
  • 80

    Wellons JC III, , Tubbs RS, & Oakes WJ, Chiari malformations and syringohydromyelia. Rengachary SS, & Ellenbogen RG: Principles of Neurosurgery ed 2 Edinburgh, Elsevier Mosby, 2005. 181195

    • Search Google Scholar
    • Export Citation

If the inline PDF is not rendering correctly, you can download the PDF file here.

Contributor Notes

Address correspondence to: R. Shane Tubbs, M.S., P.A.-C., Ph.D., Children's Hospital, ACC 400, 1600 7th Avenue South, Birmingham, Alabama 35233. email: shane.tubbs@chsys.org.
  • 1

    Agha A, & Hashimoto K: Multiple lentigines (Leopard) syndrome with Chiari I malformation. J Dermatol 22:520523, 1995

  • 2

    Aguilera Grijalvo C, , Bank WO, , Balériaux D, , Matos C, , Imana FJ, & Szliwowski HB, : Lipomyeloschisis associated with thoracic syringomyelia and Chiari I malformation. Neuroradiology 35:375377, 1993

    • Search Google Scholar
    • Export Citation
  • 3

    Badie B, , Mendoza D, & Batzdorf U: Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation. Neurosurgery 37:214218, 1995

    • Search Google Scholar
    • Export Citation
  • 4

    Byrne RW, , Hayes EA, , George TM, & McLone DG: Operative resection of 100 spinal lipomas in infants less than 1 year of age. Pediatr Neurosurg 23:182187, 1995

    • Search Google Scholar
    • Export Citation
  • 5

    Caldemeyer KS, , Boaz JC, , Wappner RS, , Moran CC, , Smith RR, & Quets JP: Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology 195:733738, 1995

    • Search Google Scholar
    • Export Citation
  • 6

    Chang YT, , Tsai FJ, , Shen WC, , Lin HC, , Peng CT, & Tsai CH: Antley-Bixler syndrome associated with Arnold-Chiari malformation. Acta Paediatr 89:737739, 2000

    • Search Google Scholar
    • Export Citation
  • 7

    Chiari H: Veranderungen des kleinhirns infolge von hydrocephaliedes grosshirns. Deutsche Medicinische Wochenschrigt 17:11721175, 1891

    • Search Google Scholar
    • Export Citation
  • 8

    Cinalli G, , Renier D, , Sebag G, , Sainte-Rose C, , Arnaud E, & Pierre-Kahn A: Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575582, 1995

    • Search Google Scholar
    • Export Citation
  • 9

    Cinalli G, , Spennato P, , Sainte-Rose C, , Arnaud E, , Aliberti F, & Brunelle F, : Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889901, 2005

    • Search Google Scholar
    • Export Citation
  • 10

    Ciprero KL, , Clayton-Smith J, , Donnai D, , Zimmerman RA, , Zackai EH, & Ming JE: Symptomatic Chiari I malformation in Kabuki syndrome. Am J Med Genet A 132A:273275, 2005

    • Search Google Scholar
    • Export Citation
  • 11

    Du LC, , Delaporte E, , Catteau B, , Destee A, & Piette F: Phacomatosis pigmentovascularis type II. Eur J Dermatol 8:569572, 1998

  • 12

    Elster AD, & Chen MY: Chiari I malformations: clinical and radiologic reappraisal. Radiology 183:347353, 1992

  • 13

    Ferrero GB, , Biamino E, , Sorasio L, , Banaudi E, , Peruzzi L, & Forzano S, : Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet 50:327337, 2007

    • Search Google Scholar
    • Export Citation
  • 14

    Frieden IJ, , Williams ML, & Barkovich AJ: Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 31:423429, 1994

    • Search Google Scholar
    • Export Citation
  • 15

    Gardner WJ: Hydrodynamic mechanism of syringomyelia: its relationship to myelocele. J Neurol Neurosurg Psychiatry 28:247259, 1965

  • 16

    Germain DP, , Benistan K, & Halimi P: Chiari type I malformation in four unrelated patients affected with Fabry disease. Eur J Med Genet 49:419425, 2006

    • Search Google Scholar
    • Export Citation
  • 17

    Greally MT, , Carey JC, , Milewicz DM, , Hudgins L, , Goldberg RB, & Shprintzen RJ, : Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 76:202212, 1998

    • Search Google Scholar
    • Export Citation
  • 18

    Gripp KW, , Scott CI Jr, , Nicholson L, , Magram G, & Grissom LE: Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda. Skeletal Radiol 26:131133, 1997

    • Search Google Scholar
    • Export Citation
  • 19

    Haapanen ML: CHERI: time to identify the syndrome?. J Craniofac Surg 18:369373, 2007

  • 20

    Hamilton J, , Chitayat D, , Blaser S, , Cohen LE, , Phillips JA III, & Daneman D: Familial growth hormone deficiency associated with MRI abnormalities. Am J Med Genet 80:128132, 1998

    • Search Google Scholar
    • Export Citation
  • 21

    Harwood-Nash DC, Coronal synostosis. Rogers LF: Disorders of the Head and Neck Syllabus, Second Series Reston, VA, American College of Radiology, 1977. 340353

    • Search Google Scholar
    • Export Citation
  • 22

    Hopkins TE, & Haines SJ: Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. J Neurosurg 98:11131115, 2003

    • Search Google Scholar
    • Export Citation
  • 23

    Iglesias-Osma C, , Gómez Sánchez JC, , Suquia Múgica B, , Querol Prieto R, & de Portugal Alvarez J: [Paget's disease of bone and basilar impression associated with an Arnold-Chiari type I malformation.]. An Med Interna 14:519522, 1997. (Span)

    • Search Google Scholar
    • Export Citation
  • 24

    Kreiborg S, , Marsh JL, , Cohen MM Jr, , Liversage M, , Pedersen H, & Skovby F, : Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21:181188, 1993

    • Search Google Scholar
    • Export Citation
  • 25

    Kuether TA, & Piatt JH: Chiari malformation associated with vitamin D-resistant rickets: case report. Neurosurgery 42:11681171, 1998

  • 26

    Kulkarni ML, , Marakkanavar SN, , Sushanth S, , Pradeep N, , Ashok C, & Balaji MD, : Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr 74:412415, 2007

    • Search Google Scholar
    • Export Citation
  • 27

    Kunishige M, , Azuma H, , Masuda K, , Shigekiyo T, , Arii Y, & Kawai H, : Interferon alpha-2a therapy for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome. A case report. Angiology 48:273277, 1997

    • Search Google Scholar
    • Export Citation
  • 28

    Lee J, , Hida K, , Seki T, , Kitamura J, & Iwasaki Y: Pierre-Robin syndrome associated with Chiari type I malformation. Childs Nerv Syst 19:380383, 2003

    • Search Google Scholar
    • Export Citation
  • 29

    Legault L, , Gagnon C, & Lapointe N: Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. J Pediatr 138:151152, 2001

    • Search Google Scholar
    • Export Citation
  • 30

    Levy WJ, , Mason L, & Hahn JF: Chiari malformation presenting in adults: a surgical experience in 127 cases. Neurosurgery 12:377390, 1983

    • Search Google Scholar
    • Export Citation
  • 31

    Loukas M, , Noordeh N, , Shoja MM, , Pugh J, , Oakes WJ, & Tubbs RS: Hans Chiari (1851–1916). Childs Nerv Syst 24:407409, 2008

  • 32

    Marin-Padilla M, & Marin-Padilla TM: Morphogenesis of experimentally induced Arnold–Chiari malformation. J Neurol Sci 50:2955, 1981

  • 33

    Martinez-Perez D, , Vander Woude DL, , Barnes PD, , Scott RM, & Mulliken JB: Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg 25:252255, 1996

    • Search Google Scholar
    • Export Citation
  • 34

    Meadows J, , Kraut M, , Guarnieri M, , Haroun RI, & Carson BS: Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging. J Neurosurg 92:920926, 2000

    • Search Google Scholar
    • Export Citation
  • 35

    Milhorat TH, , Bolognese PA, , Nishikawa M, , McDonnell NB, & Francomano CA: Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine 7:601609, 2007

    • Search Google Scholar
    • Export Citation
  • 36

    Milhorat TH, , Chou MW, , Trinidad EM, , Kula RW, , Mandell M, & Wolpert C, : Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:10051017, 1999

    • Search Google Scholar
    • Export Citation
  • 37

    Moore KL, , Persaud TVN, & Torchia MG: Before We Are Born: Essentials of Embryology and Birth Defects ed 7 Philadelphia, Saunders Elsevier, 2008. 233

    • Search Google Scholar
    • Export Citation
  • 38

    Nakai T, , Asato R, , Miki Y, , Tanaka F, , Matsumoto S, & Konishi J: A case of achondroplasia with downward displacement of the brain stem. Neuroradiology 37:293294, 1995

    • Search Google Scholar
    • Export Citation
  • 39

    Needleman JP, , Panitch HB, , Bierbrauer KS, & Schidlow DV: Chiari type I malformation in children and adolescents with cystic fibrosis. Pediatr Pulmonol 30:490492, 2000

    • Search Google Scholar
    • Export Citation
  • 40

    Nohria V, & Oakes WJ: Chiari I malformation: a review of 43 patients. Pediatr Neurosurg 16:222227

  • 41

    Nye JS, , Hayes EA, , Amendola M, , Vaughn D, , Charrow J, & McLone DG, : Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61:165171, 2000

    • Search Google Scholar
    • Export Citation
  • 42

    Oakes WJ, Chiari malformations, hydromyelia, syringomyelia. Wilkins RH, & Rengachary SS: Neurosurgery ed 2 New York, McGraw-Hill, 1996. 35933616

    • Search Google Scholar
    • Export Citation
  • 43

    Oakes WJ, The Chiari malformations of the child. Menezes AH, & Sonntag VKH: Principles of Spinal Surgery New York, McGraw-Hill, 1996. 1:379394

    • Search Google Scholar
    • Export Citation
  • 44

    Oakes WJ, & Tubbs RS, Chiari malformations. Winn HR: Youmans Neurological Surgery ed 5 Philadelphia, Saunders, 2004. 33473361

  • 45

    Onesti ST, , Ashkenazi E, , Miller AM, & Michelsen WJ: Resolution of acquired tonsillar herniation after resection of supratentorial meningioma. Case illustration. J Neurosurg 86:572, 1997

    • Search Google Scholar
    • Export Citation
  • 46

    Park WJ, , Meyers GA, , Li X, , Theda C, , Day D, & Orlow SJ, : Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:12291233, 1995

    • Search Google Scholar
    • Export Citation
  • 47

    Paul KS, , Lye RH, , Strang FA, & Dutton J: Arnold-Chiari malformation. Review of 71 cases. J Neurosurg 58:183187, 1983

  • 48

    Pober BR, & Filiano JJ: Association of Chiari I malformation and Williams syndrome. Pediatr Neurol 12:8488, 1995

  • 49

    Puget S, , Kondageski C, , Wray A, , Boddaert N, , Roujeau T, & Di Rocco F, : Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report. J Neurosurg 106:1 Suppl 4852, 2007

    • Search Google Scholar
    • Export Citation
  • 50

    Ranger A, , Al-Hayek A, & Matic D: Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. J Craniofac Surg 21:427431, 2010

    • Search Google Scholar
    • Export Citation
  • 51

    Rengachary SS, , Blount J, , Heros D, , Bowers S, & Truwit C: Craniocephalic disproportion with increased intracranial pressure and brain herniation: a new clinical syndrome in anemic patients: report of two cases. Neurosurgery 41:297304, 1997

    • Search Google Scholar
    • Export Citation
  • 52

    Renier D, , Cinalli G, , Lajeunie E, , Arnaud E, & Marchac D: [Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases.]. Arch Pediatr 4:722729, 1997. (Fr)

    • Search Google Scholar
    • Export Citation
  • 53

    Richards PS, , Bargiota A, & Corrall RJ: Paget's disease causing an Arnold-Chiari Type 1 malformation: radiographic findings. AJR Am J Roentgenol 176:816817, 2001

    • Search Google Scholar
    • Export Citation
  • 54

    Richtsmeier JT, & Lele S: Analysis of craniofacial growth in Crouzon syndrome using landmark data. J Craniofac Genet Dev Biol 10:3962, 1990

    • Search Google Scholar
    • Export Citation
  • 55

    Rinaldi F, , Cioffi FA, , Columbano L, , Krasagakis G, & Bernini FP: Tethered cord syndrome. J Neurosurg Sci 49:131135, 2005

  • 56

    Ringrose RE, , Jabbour JT, & Keele DK: Hemihypertrophy. Pediatrics 36:434448, 1965

  • 57

    Rodrigues VJ, , Elsayed S, , Loeys BL, , Dietz HC, & Yousem DM: Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 30:16141619, 2009

    • Search Google Scholar
    • Export Citation
  • 58

    Saldino RM, , Steinbach HL, & Epstein CJ: Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol Radium Ther Nucl Med 116:609622, 1972

    • Search Google Scholar
    • Export Citation
  • 59

    Schady W, , Metcalfe RA, & Butler P: The incidence of craniocervical bony anomalies in the adult Chiari malformation. J Neurol Sci 82:193203, 1987

    • Search Google Scholar
    • Export Citation
  • 60

    Serarslan Y, , Melek IM, , Duman T, , Eraslan T, , Akdemir G, & Yalçin F: The co-occurrence of Chiari type 1 malformation with syringomyelia and total situs inversus. Med Sci Monit 13:CS110CS113, 2007

    • Search Google Scholar
    • Export Citation
  • 61

    Sewell MD, , Akram H, & Wadley J: Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. Br J Neurosurg 22:8385, 2008

    • Search Google Scholar
    • Export Citation
  • 62

    Sgouros S, , Kountouri M, & Natarajan K: Skull base growth in children with Chiari malformation Type I. J Neurosurg 107:3 Suppl 188192, 2007

    • Search Google Scholar
    • Export Citation
  • 63

    Shigeta H, & Sakai K: [Chiari malformation (chronic tonsillar herniation) and syringomyelia in Crouzon's syndrome.]. Nerv Syst Child 21:395401, 1996. (Jpn)

    • Search Google Scholar
    • Export Citation
  • 64

    Tokime T, , Okamoto S, , Yamagata S, & Konishi T: Syringomyelia associated with a posterior fossa cyst. Illustration of two cases. J Neurosurg 86:907, 1997

    • Search Google Scholar
    • Export Citation
  • 65

    Tubbs RS, , Beckman J, , Naftel RP, , Chern JJ, , Wellons JC III, & Rozzelle CJ, : Institutional experience with 500 cases of surgically treated pediatric Chiari malformation Type I. Clinical article. J Neurosurg Pediatr 7:248256, 2011

    • Search Google Scholar
    • Export Citation
  • 66

    Tubbs RS, , Elton S, , Blount JP, & Oakes WJ: Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. Pediatr Neurosurg 35:136139, 2001

    • Search Google Scholar
    • Export Citation
  • 67

    Tubbs RS, , Lyerly MJ, , Loukas M, , Shoja MM, & Oakes WJ: The pediatric Chiari I malformation: a review. Childs Nerv Syst 23:12391250, 2007

  • 68

    Tubbs RS, & Oakes WJ: Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report. J Neurosurg 103:2 Suppl 172174, 2005

    • Search Google Scholar
    • Export Citation
  • 69

    Tubbs RS, & Oakes WJ: Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. Childs Nerv Syst 22:15071508, 2006

    • Search Google Scholar
    • Export Citation
  • 70

    Tubbs RS, & Oakes WJ: Costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association. J Child Neurol 18:496498, 2003

    • Search Google Scholar
    • Export Citation
  • 71

    Tubbs RS, , Rutledge SL, , Kosentka A, , Bartolucci AA, & Oakes WJ: Chiari I malformation and neurofibromatosis type 1. Pediatr Neurol 30:278280, 2004

    • Search Google Scholar
    • Export Citation
  • 72

    Tubbs RS, , Smyth MD, & Oakes WJ: Chiari I malformation and cloacal exstrophy: report of a patient with both defects of blastogenesis. Am J Med Genet A 119A:231233, 2003

    • Search Google Scholar
    • Export Citation
  • 73

    Tubbs RS, , Smyth MD, , Wellons JC, , Blount JP, & Oakes WJ: Cutaneous manifestations and the Chiari I malformation. Pediatr Neurol 29:250252, 2003

    • Search Google Scholar
    • Export Citation
  • 74

    Tubbs RS, , Webb D, , Abdullatif H, , Conklin M, , Doyle S, & Oakes WJ: Posterior cranial fossa volume in patients with rickets: insights into the increased occurrence of Chiari I malformation in metabolic bone disease. Neurosurgery 55:380384, 2004

    • Search Google Scholar
    • Export Citation
  • 75

    Tubbs RS, , Wellons JC III, & Oakes WJ: Asymmetry of tonsillar ectopia in Chiari I malformation. Pediatr Neurosurg 37:199202, 2002

  • 76

    Tubbs RS, , Wellons JC III, & Oakes WJ: Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. Childs Nerv Syst 19:5053, 2003

    • Search Google Scholar
    • Export Citation
  • 77

    Tubbs RS, , Wellons JC III, , Oakes WJ, & Blount JP: Reformation of the posterior atlanto-occipital membrane following posterior fossa decompression with subsequent constriction at the craniocervical junction. Pediatr Neurosurg 38:219221, 2003

    • Search Google Scholar
    • Export Citation
  • 78

    Tubbs RS, , Wellons JC III, , Smyth MD, , Bartolucci AA, , Blount JP, & Oakes WJ, : Children with growth hormone deficiency and Chiari I malformation: a morphometric analysis of the posterior cranial fossa. Pediatr Neurosurg 38:324328, 2003

    • Search Google Scholar
    • Export Citation
  • 79

    Vega A, , Quintana F, & Berciano J: Basichondrocranium anomalies in adult Chiari type I malformation: a morphometric study. J Neurol Sci 99:137145, 1990

    • Search Google Scholar
    • Export Citation
  • 80

    Wellons JC III, , Tubbs RS, & Oakes WJ, Chiari malformations and syringohydromyelia. Rengachary SS, & Ellenbogen RG: Principles of Neurosurgery ed 2 Edinburgh, Elsevier Mosby, 2005. 181195

    • Search Google Scholar
    • Export Citation

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 797 282 42
PDF Downloads 940 352 58
EPUB Downloads 0 0 0