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
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
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
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
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
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
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
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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