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Congenital Calvarial Defects
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Enlarged parietal foramen (EPF), aplasia cutis congenita (ACC)
            • Definitions

              • Parietal fissure (common)
                • Small, residual, incomplete medial parietal bone suture
              • Parietal foramina (common; 60-70% of normal skulls)
                • Nonossification of medial parietal bone embryonal rest
                • Emissary vein portal between superior sagittal sinus and extracranial scalp veins
              • Enlarged parietal foramina (rare; prevalence 1:15,000-25,000)
                • Delayed/incomplete ossification of membranous parietal bone → round or oval parietal bone defects
                • Calvarial defect may be large, palpable
              • Sinus pericranii
                • Abnormal communication between intracranial, extracranial venous systems through calvarial defect
                • Soft (often red or blue) scalp mass near superior sagittal or transverse dural sinuses
                • ↑ size with ↑ intracranial pressure (ICP) (Valsalva, dependent positioning)
              • Craniolacunia (venous lakes)
                • Patulous calvarial diploic veins
                • Irregular, geographic, well-demarcated contour
                • Variable size and number
              • Arachnoid (pacchionian) granulations
                • Located within 3 cm of superior sagittal sinus
                • Often multiple, irregular contour
              • Abnormally large fontanelle
                • Secondary to ↑ ICP (suture spreading) or skeletal dysplasia
                • Search for ventriculomegaly, skeletal anomalies
              • Cleidocranial dysplasia (uncommon)
                • Defective membranous and endochondral bone formation → delayed skull ossification
                • Enlarged sagittal and metopic sutures, wide anterior and posterior fontanelles, broad cranial diameter, multiple wormian bones along lambdoid sutures
              • Cranium bifidum occultum (cleft skull)
                • Delayed ossification of parietal bones → large midline skull defects
                • Progressive parietal bone ossification fills defects; may persist as parietal foramina
                  • Cranium bifidum and parietal foramina may be continuum differentiated by time of detection
                  • Persistence in adulthood rare (< 1%)
                • Brain covered by dura, intact scalp
              • Amniotic band syndrome
                • Occurs when inner amnion membrane ruptures or tears without disruption of outer chorion
                • Strands of amniotic sac (bands) from ruptured amnion entangle digits, limbs, or other fetal parts
              • ACC (uncommon)
                • Congenital skin malformation; may have underlying skull defect
                • Skin defects most frequent on midline scalp > trunk, face, limbs
                • Distribution usually symmetrical
              • Acalvaria (rare)
                • Absent superior osseous cranial vault, dura mater
                • Normal skull base, facial bones, brain (usually)
              • Acrania (rare)
                • Partial or complete absence of cranial vault bones, abnormal cerebral hemisphere development

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Alalade AF et al: Fossa navicularis in a pediatric patient: anatomical skull base variant with clinical implications. J Neurosurg Pediatr. 1-5, 2018
                                    2. Flouty OE et al: Infantile cranial fasciitis: case-based review and operative technique. Childs Nerv Syst. 33(6):899-908, 2017
                                    3. Sanders FH et al: Extremely large sinus pericranii with involvement of the torcular and associated with Crouzon's syndrome. Childs Nerv Syst. 33(9):1445-9, 2017
                                    4. Singh I et al: Growing skull fractures: guidelines for early diagnosis and surgical management. Childs Nerv Syst. 32(6):1117-22, 2016
                                    5. Bouali S et al: Clinical and imaging findings in a rare case of sinus pericranii. Childs Nerv Syst. 31(9):1429-32, 2015
                                    6. Pavanello M et al: Sinus pericranii: diagnosis and management in 21 pediatric patients. J Neurosurg Pediatr. 15(1):60-70, 2015
                                    7. Ramdurg SR et al: Pediatric encephaloceles: a series of 20 cases over a period of 3 years. J Pediatr Neurosci. 10(4):317-20, 2015
                                    8. Hawasli AH et al: Acalvaria. J Neurosurg Pediatr. 14(2):200-2, 2014
                                    9. Singh S et al: Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. J Clin Diagn Res. 8(6):ZD19-20, 2014
                                    10. Griessenauer CJ et al: Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst. 29(4):543-7, 2013
                                    11. Lee KE et al: RUNX2 mutations in cleidocranial dysplasia. Genet Mol Res. 12(4):4567-74, 2013
                                    12. Vij R et al: Cleidocranial dysplasia: complete clinical, radiological and histological profiles. BMJ Case Rep. 2013
                                    13. Kayserili H et al: Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A. 158A(1):236-44, 2012
                                    14. Vedajallam S et al: Cranium bifidum occultum. Pediatr Neurosurg. 48(4):261-3, 2012
                                    15. Cardoso BM et al: Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation. Clin Dysmorphol. 19(3):150-2, 2010
                                    16. Chung HY et al: Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol. 36(4):521-2, 2010
                                    17. Celik SE et al: Complete cranium bifidum without scalp abnormality. Case report. J Neurosurg Pediatrics. 1(3):258-60, 2008
                                    18. Mavrogiannis LA et al: Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet. 14(2):151-8, 2006
                                    19. Mupparapu M et al: Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs. Am J Orthod Dentofacial Orthop. 129(6):825-8, 2006
                                    20. Bianca S et al: Prenatal and postnatal findings of acrania. Arch Gynecol Obstet. 271(3):256-8, 2005
                                    21. Perlyn CA et al: Congenital scalp and calvarial deficiencies: principles for classification and surgical management. Plast Reconstr Surg. 115(4):1129-41, 2005
                                    22. Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004
                                    23. Amaral L et al: MR imaging for evaluation of lesions of the cranial vault: a pictorial essay. Arq Neuropsiquiatr. 61(3A):521-32, 2003
                                    24. de Heer IM et al: Parietal bone agenesis and associated multiple congenital anomalies. J Craniofac Surg. 14(2):192-6, 2003
                                    25. Kortesis B et al: Surgical management of foramina parietalia permagna. J Craniofac Surg. 14(4):538-44, 2003
                                    26. Reimao R et al: Frontal foramina, Chiari II malformation, and hydrocephalus in a female. Pediatr Neurol. 29(4):341-4, 2003
                                    27. Tubbs RS et al: Parietal foramina are not synonymous with giant parietal foramina. Pediatr Neurosurg. 39(4):216-7, 2003
                                    28. Donati V et al: Reparation of a severe case of aplasia cutis congenita with engineered skin. Biol Neonate. 80(4):273-6, 2001
                                    29. Chandran S et al: Fetal acalvaria with amniotic band syndrome. Arch Dis Child Fetal Neonatal Ed. 82(1):F11-3, 2000
                                    30. Reddy AT et al: Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology. 54(5):1175-8, 2000
                                    31. Wilkie AO et al: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 24(4):387-90, 2000
                                    32. Kaplan SB et al: Radiographic manifestations of congenital anomalies of the skull. Radiol Clin North Am. 29(2):195-218, 1991
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Enlarged parietal foramen (EPF), aplasia cutis congenita (ACC)
                                              • Definitions

                                                • Parietal fissure (common)
                                                  • Small, residual, incomplete medial parietal bone suture
                                                • Parietal foramina (common; 60-70% of normal skulls)
                                                  • Nonossification of medial parietal bone embryonal rest
                                                  • Emissary vein portal between superior sagittal sinus and extracranial scalp veins
                                                • Enlarged parietal foramina (rare; prevalence 1:15,000-25,000)
                                                  • Delayed/incomplete ossification of membranous parietal bone → round or oval parietal bone defects
                                                  • Calvarial defect may be large, palpable
                                                • Sinus pericranii
                                                  • Abnormal communication between intracranial, extracranial venous systems through calvarial defect
                                                  • Soft (often red or blue) scalp mass near superior sagittal or transverse dural sinuses
                                                  • ↑ size with ↑ intracranial pressure (ICP) (Valsalva, dependent positioning)
                                                • Craniolacunia (venous lakes)
                                                  • Patulous calvarial diploic veins
                                                  • Irregular, geographic, well-demarcated contour
                                                  • Variable size and number
                                                • Arachnoid (pacchionian) granulations
                                                  • Located within 3 cm of superior sagittal sinus
                                                  • Often multiple, irregular contour
                                                • Abnormally large fontanelle
                                                  • Secondary to ↑ ICP (suture spreading) or skeletal dysplasia
                                                  • Search for ventriculomegaly, skeletal anomalies
                                                • Cleidocranial dysplasia (uncommon)
                                                  • Defective membranous and endochondral bone formation → delayed skull ossification
                                                  • Enlarged sagittal and metopic sutures, wide anterior and posterior fontanelles, broad cranial diameter, multiple wormian bones along lambdoid sutures
                                                • Cranium bifidum occultum (cleft skull)
                                                  • Delayed ossification of parietal bones → large midline skull defects
                                                  • Progressive parietal bone ossification fills defects; may persist as parietal foramina
                                                    • Cranium bifidum and parietal foramina may be continuum differentiated by time of detection
                                                    • Persistence in adulthood rare (< 1%)
                                                  • Brain covered by dura, intact scalp
                                                • Amniotic band syndrome
                                                  • Occurs when inner amnion membrane ruptures or tears without disruption of outer chorion
                                                  • Strands of amniotic sac (bands) from ruptured amnion entangle digits, limbs, or other fetal parts
                                                • ACC (uncommon)
                                                  • Congenital skin malformation; may have underlying skull defect
                                                  • Skin defects most frequent on midline scalp > trunk, face, limbs
                                                  • Distribution usually symmetrical
                                                • Acalvaria (rare)
                                                  • Absent superior osseous cranial vault, dura mater
                                                  • Normal skull base, facial bones, brain (usually)
                                                • Acrania (rare)
                                                  • Partial or complete absence of cranial vault bones, abnormal cerebral hemisphere development

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Alalade AF et al: Fossa navicularis in a pediatric patient: anatomical skull base variant with clinical implications. J Neurosurg Pediatr. 1-5, 2018
                                                                      2. Flouty OE et al: Infantile cranial fasciitis: case-based review and operative technique. Childs Nerv Syst. 33(6):899-908, 2017
                                                                      3. Sanders FH et al: Extremely large sinus pericranii with involvement of the torcular and associated with Crouzon's syndrome. Childs Nerv Syst. 33(9):1445-9, 2017
                                                                      4. Singh I et al: Growing skull fractures: guidelines for early diagnosis and surgical management. Childs Nerv Syst. 32(6):1117-22, 2016
                                                                      5. Bouali S et al: Clinical and imaging findings in a rare case of sinus pericranii. Childs Nerv Syst. 31(9):1429-32, 2015
                                                                      6. Pavanello M et al: Sinus pericranii: diagnosis and management in 21 pediatric patients. J Neurosurg Pediatr. 15(1):60-70, 2015
                                                                      7. Ramdurg SR et al: Pediatric encephaloceles: a series of 20 cases over a period of 3 years. J Pediatr Neurosci. 10(4):317-20, 2015
                                                                      8. Hawasli AH et al: Acalvaria. J Neurosurg Pediatr. 14(2):200-2, 2014
                                                                      9. Singh S et al: Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. J Clin Diagn Res. 8(6):ZD19-20, 2014
                                                                      10. Griessenauer CJ et al: Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst. 29(4):543-7, 2013
                                                                      11. Lee KE et al: RUNX2 mutations in cleidocranial dysplasia. Genet Mol Res. 12(4):4567-74, 2013
                                                                      12. Vij R et al: Cleidocranial dysplasia: complete clinical, radiological and histological profiles. BMJ Case Rep. 2013
                                                                      13. Kayserili H et al: Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A. 158A(1):236-44, 2012
                                                                      14. Vedajallam S et al: Cranium bifidum occultum. Pediatr Neurosurg. 48(4):261-3, 2012
                                                                      15. Cardoso BM et al: Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation. Clin Dysmorphol. 19(3):150-2, 2010
                                                                      16. Chung HY et al: Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol. 36(4):521-2, 2010
                                                                      17. Celik SE et al: Complete cranium bifidum without scalp abnormality. Case report. J Neurosurg Pediatrics. 1(3):258-60, 2008
                                                                      18. Mavrogiannis LA et al: Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet. 14(2):151-8, 2006
                                                                      19. Mupparapu M et al: Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs. Am J Orthod Dentofacial Orthop. 129(6):825-8, 2006
                                                                      20. Bianca S et al: Prenatal and postnatal findings of acrania. Arch Gynecol Obstet. 271(3):256-8, 2005
                                                                      21. Perlyn CA et al: Congenital scalp and calvarial deficiencies: principles for classification and surgical management. Plast Reconstr Surg. 115(4):1129-41, 2005
                                                                      22. Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004
                                                                      23. Amaral L et al: MR imaging for evaluation of lesions of the cranial vault: a pictorial essay. Arq Neuropsiquiatr. 61(3A):521-32, 2003
                                                                      24. de Heer IM et al: Parietal bone agenesis and associated multiple congenital anomalies. J Craniofac Surg. 14(2):192-6, 2003
                                                                      25. Kortesis B et al: Surgical management of foramina parietalia permagna. J Craniofac Surg. 14(4):538-44, 2003
                                                                      26. Reimao R et al: Frontal foramina, Chiari II malformation, and hydrocephalus in a female. Pediatr Neurol. 29(4):341-4, 2003
                                                                      27. Tubbs RS et al: Parietal foramina are not synonymous with giant parietal foramina. Pediatr Neurosurg. 39(4):216-7, 2003
                                                                      28. Donati V et al: Reparation of a severe case of aplasia cutis congenita with engineered skin. Biol Neonate. 80(4):273-6, 2001
                                                                      29. Chandran S et al: Fetal acalvaria with amniotic band syndrome. Arch Dis Child Fetal Neonatal Ed. 82(1):F11-3, 2000
                                                                      30. Reddy AT et al: Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology. 54(5):1175-8, 2000
                                                                      31. Wilkie AO et al: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 24(4):387-90, 2000
                                                                      32. Kaplan SB et al: Radiographic manifestations of congenital anomalies of the skull. Radiol Clin North Am. 29(2):195-218, 1991