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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Acrocephalosyndactyly type I
Definitions
Craniofacial dysostosis characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Giancotti A et al: Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. Childs Nerv Syst. 30(8):1445-8, 2014
Hill CA et al: Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet A. 161A(4):745-57, 2013
Au PK et al: Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 31(2):218-20, 2011
Moes JA et al: Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med. 64(4):125-7, 2011
Ang BU et al: Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. J Craniofac Surg. 21(2):462-7, 2010
Chen CP et al: Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. Taiwan J Obstet Gynecol. 49(2):231-4, 2010
Du X et al: Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat. 217(2):97-105, 2010
Herman TE et al: Apert syndrome with omphalocele. J Perinatol. 30(10):695-7, 2010
Lee DS et al: Eugène Apert and his contributions to plastic surgery. Ann Plast Surg. 64(3):362-5, 2010
Martínez-Abadías N et al: Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 239(11):3058-71, 2010
Miraoui H et al: Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 19(9):1678-89, 2010
Patel B et al: Postmortem computed tomography in a case of Apert Syndrome: correlation with conventional autopsy and prenatal ultrasound. Ultrasound Q. 26(4):249-53, 2010
Weber B et al: Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther. 27(1):51-6, 2010
Athanasiadis AP et al: Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther. 24(4):495-8, 2008
Breugem CC et al: Monozygotic twins with Apert syndrome. Cleft Palate Craniofac J. 45(1):101-4, 2008
David AL et al: Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn. 27(7):629-32, 2007
Robin NH et al: <i>FGFR</i>-Related Craniosynostosis Syndromes 1993
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Acrocephalosyndactyly type I
Definitions
Craniofacial dysostosis characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Giancotti A et al: Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. Childs Nerv Syst. 30(8):1445-8, 2014
Hill CA et al: Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet A. 161A(4):745-57, 2013
Au PK et al: Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 31(2):218-20, 2011
Moes JA et al: Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med. 64(4):125-7, 2011
Ang BU et al: Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. J Craniofac Surg. 21(2):462-7, 2010
Chen CP et al: Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. Taiwan J Obstet Gynecol. 49(2):231-4, 2010
Du X et al: Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat. 217(2):97-105, 2010
Herman TE et al: Apert syndrome with omphalocele. J Perinatol. 30(10):695-7, 2010
Lee DS et al: Eugène Apert and his contributions to plastic surgery. Ann Plast Surg. 64(3):362-5, 2010
Martínez-Abadías N et al: Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 239(11):3058-71, 2010
Miraoui H et al: Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 19(9):1678-89, 2010
Patel B et al: Postmortem computed tomography in a case of Apert Syndrome: correlation with conventional autopsy and prenatal ultrasound. Ultrasound Q. 26(4):249-53, 2010
Weber B et al: Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther. 27(1):51-6, 2010
Athanasiadis AP et al: Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther. 24(4):495-8, 2008
Breugem CC et al: Monozygotic twins with Apert syndrome. Cleft Palate Craniofac J. 45(1):101-4, 2008
David AL et al: Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn. 27(7):629-32, 2007
Robin NH et al: <i>FGFR</i>-Related Craniosynostosis Syndromes 1993
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