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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Craniosynostosis, sutural synostosis, cranial dysostosis, craniofacial dysostosis
Definitions
- Heterogeneous group with abnormal head shape, premature sutural closure and fusion
- Nonsyndromic (85%); isolated, classified according to involved suture(s)
- Simple (single) suture (75-80%)
- Abnormal head shape, (usually) normal intelligence
- Usually sporadic, operated for cosmetic reasons
- Multiple sutures (20-25%)
- Oxycephaly (40-50%), brachycephaly (30-40%), unclassified (20%)
- Simple (single) suture (75-80%)
- Syndromic [> 180 syndromes (15%)]; multiple anomalies with (frequent) developmental delay
- Association with craniofacial, skeletal, nervous system, other anomalies
- Syndrome description based on clinical features
- Acrocephalosyndactyly type 1 (Apert)
- Acrocephalosyndactyly type 2 (Apert-Crouzon)
- Acrocephalosyndactyly type 3 (Saethre-Chotzen)
- Acrocephalosyndactyly type 4 (Waardenburg)
- Acrocephalosyndactyly type 5 (Pfeiffer)
- Acrocephalopolysyndactyly type 2 (Carpenter)
- Precise classification difficult due to considerable overlap; patients with same gene mutations may have different phenotypic manifestations
- Nonsyndromic (85%); isolated, classified according to involved suture(s)
- Heterogeneous group with abnormal head shape, premature sutural closure and fusion
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Ramdat Misier KRR et al: Correlation of intracranial volume with head surface volume in patients with multisutural craniosynostosis. J Craniofac Surg. ePub, 2020
- Szathmari A et al: Cranioplasty for bone defects after craniosynostosis surgery. Case series with literature review. Neurochirurgie. ePub, 2020
- Cyprus GN et al: Spatial regulation of gene expression in nonsyndromic sagittal craniosynostosis. J Neurosurg Pediatr. 1-7, 2018
- Dalle Ore CL et al: Endoscopic surgery for nonsyndromic craniosynostosis: a 16-year single-center experience. J Neurosurg Pediatr. 22(4):335-43, 2018
- Ghali GZ et al: Intracranial venous hypertension in craniosynostosis: mechanistic underpinnings and therapeutic implications. World Neurosurg. S1878-8750(18)31740-6, 2018
- Ginat DT et al: CT imaging findings after craniosynostosis reconstructive surgery. Pediatr Neurosurg. 53(4):215-21, 2018
- Isaac KV et al: Analysis of clinical outcomes for treatment of sagittal craniosynostosis: a comparison of endoscopic suturectomy and cranial vault remodeling. J Neurosurg Pediatr. 1-8, 2018
- Jimenez DF et al: Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience. J Neurosurg Pediatr. 1-14, 2018
- Kestle JRW et al: Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. J Neurosurg Pediatr. 1-5, 2018
- Yan H et al: A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. J Neurosurg Pediatr. 22(4):361-8, 2018
- Moosa S et al: Altered FGF signalling in congenital craniofacial and skeletal disorders. Semin Cell Dev Biol. 53:115-25, 2016
- Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. 31(5):735-41, 2015
- Blaser SI et al: Skull base development and craniosynostosis. Pediatr Radiol. 45 Suppl 3:S485-96, 2015
- di Rocco F et al: Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome? Birth Defects Res A Clin Mol Teratol. 103(4):306-10, 2015
- Governale LS: Craniosynostosis. Pediatr Neurol. 53(5):394-401, 2015
- Ishii M et al: The development of the calvarial bones and sutures and the pathophysiology of craniosynostosis. Curr Top Dev Biol. 115:131-56, 2015
- Anderson IA et al: Does patient ethnicity affect site of craniosynostosis? J Neurosurg Pediatr. 14(6):682-7, 2014
- Calandrelli R et al: Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. Radiol Med. 119(9):694-704, 2014
- Greenwood J et al: Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 16(4):302-10, 2014
- Snider TN et al: Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Res C Embryo Today. 102(3):324-32, 2014
- Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
- Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
- Greig AV et al: Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 24(1):204-15, 2013
- Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
- Kuang AA et al: Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg. 24(3):937-40, 2013
- Tubbs RS et al: Kleeblattschädel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
- Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
- Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
- Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
- Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
- Dover MS: Abnormal skull shape: clinical management. Pediatr Radiol. 38 Suppl 3:S484-7, 2008
- Slovis et al: Craniosynostosis, selected craniofacial syndromes, and other abnormalities of the skull. In Caffey's Pediatric Diagnostic Imaging. 11th ed. Amsterdam, Netherlands: Mosby-Elsevier. 471-500, 2008
- Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
- Cunningham ML et al: Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 19(6):645-51, 2007
- Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
- Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
- Kotrikova B et al: Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 17(8):1968-78, 2007
- Raybaud C et al: Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 23(12):1379-88, 2007
- Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006
- Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Craniosynostosis, sutural synostosis, cranial dysostosis, craniofacial dysostosis
Definitions
- Heterogeneous group with abnormal head shape, premature sutural closure and fusion
- Nonsyndromic (85%); isolated, classified according to involved suture(s)
- Simple (single) suture (75-80%)
- Abnormal head shape, (usually) normal intelligence
- Usually sporadic, operated for cosmetic reasons
- Multiple sutures (20-25%)
- Oxycephaly (40-50%), brachycephaly (30-40%), unclassified (20%)
- Simple (single) suture (75-80%)
- Syndromic [> 180 syndromes (15%)]; multiple anomalies with (frequent) developmental delay
- Association with craniofacial, skeletal, nervous system, other anomalies
- Syndrome description based on clinical features
- Acrocephalosyndactyly type 1 (Apert)
- Acrocephalosyndactyly type 2 (Apert-Crouzon)
- Acrocephalosyndactyly type 3 (Saethre-Chotzen)
- Acrocephalosyndactyly type 4 (Waardenburg)
- Acrocephalosyndactyly type 5 (Pfeiffer)
- Acrocephalopolysyndactyly type 2 (Carpenter)
- Precise classification difficult due to considerable overlap; patients with same gene mutations may have different phenotypic manifestations
- Nonsyndromic (85%); isolated, classified according to involved suture(s)
- Heterogeneous group with abnormal head shape, premature sutural closure and fusion
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Ramdat Misier KRR et al: Correlation of intracranial volume with head surface volume in patients with multisutural craniosynostosis. J Craniofac Surg. ePub, 2020
- Szathmari A et al: Cranioplasty for bone defects after craniosynostosis surgery. Case series with literature review. Neurochirurgie. ePub, 2020
- Cyprus GN et al: Spatial regulation of gene expression in nonsyndromic sagittal craniosynostosis. J Neurosurg Pediatr. 1-7, 2018
- Dalle Ore CL et al: Endoscopic surgery for nonsyndromic craniosynostosis: a 16-year single-center experience. J Neurosurg Pediatr. 22(4):335-43, 2018
- Ghali GZ et al: Intracranial venous hypertension in craniosynostosis: mechanistic underpinnings and therapeutic implications. World Neurosurg. S1878-8750(18)31740-6, 2018
- Ginat DT et al: CT imaging findings after craniosynostosis reconstructive surgery. Pediatr Neurosurg. 53(4):215-21, 2018
- Isaac KV et al: Analysis of clinical outcomes for treatment of sagittal craniosynostosis: a comparison of endoscopic suturectomy and cranial vault remodeling. J Neurosurg Pediatr. 1-8, 2018
- Jimenez DF et al: Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience. J Neurosurg Pediatr. 1-14, 2018
- Kestle JRW et al: Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. J Neurosurg Pediatr. 1-5, 2018
- Yan H et al: A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. J Neurosurg Pediatr. 22(4):361-8, 2018
- Moosa S et al: Altered FGF signalling in congenital craniofacial and skeletal disorders. Semin Cell Dev Biol. 53:115-25, 2016
- Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. 31(5):735-41, 2015
- Blaser SI et al: Skull base development and craniosynostosis. Pediatr Radiol. 45 Suppl 3:S485-96, 2015
- di Rocco F et al: Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome? Birth Defects Res A Clin Mol Teratol. 103(4):306-10, 2015
- Governale LS: Craniosynostosis. Pediatr Neurol. 53(5):394-401, 2015
- Ishii M et al: The development of the calvarial bones and sutures and the pathophysiology of craniosynostosis. Curr Top Dev Biol. 115:131-56, 2015
- Anderson IA et al: Does patient ethnicity affect site of craniosynostosis? J Neurosurg Pediatr. 14(6):682-7, 2014
- Calandrelli R et al: Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. Radiol Med. 119(9):694-704, 2014
- Greenwood J et al: Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 16(4):302-10, 2014
- Snider TN et al: Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Res C Embryo Today. 102(3):324-32, 2014
- Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
- Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
- Greig AV et al: Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 24(1):204-15, 2013
- Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
- Kuang AA et al: Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg. 24(3):937-40, 2013
- Tubbs RS et al: Kleeblattschädel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
- Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
- Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
- Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
- Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
- Dover MS: Abnormal skull shape: clinical management. Pediatr Radiol. 38 Suppl 3:S484-7, 2008
- Slovis et al: Craniosynostosis, selected craniofacial syndromes, and other abnormalities of the skull. In Caffey's Pediatric Diagnostic Imaging. 11th ed. Amsterdam, Netherlands: Mosby-Elsevier. 471-500, 2008
- Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
- Cunningham ML et al: Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 19(6):645-51, 2007
- Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
- Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
- Kotrikova B et al: Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 17(8):1968-78, 2007
- Raybaud C et al: Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 23(12):1379-88, 2007
- Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006
- Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004
