Rare craniosynostosis syndrome characterized by craniosynostosis, midface hypoplasia, and severe 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
Tonni G et al: Early prenatal ultrasound and molecular diagnosis of apert syndrome: case report with postmortem CT-scan and chondral plate histology. Fetal Pediatr Pathol. 1-12, 2020
Tan AP et al: Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. Childs Nerv Syst. 34(2):205-16, 2018
Werner H et al: Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. Childs Nerv Syst. 34(8):1563-71, 2018
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
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
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
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
Faro C et al: Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. Ultrasound Obstet Gynecol. 27(1):28-33, 2006
Robin NH et al: FGFR-related craniosynostosis syndromes. In GeneReviews® [Internet]. University of Washington, Seattle, 1993
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KEY FACTS
Terminology
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TERMINOLOGY
Synonyms
Acrocephalosyndactyly type I
Definitions
Rare craniosynostosis syndrome characterized by craniosynostosis, midface hypoplasia, and severe 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
Tonni G et al: Early prenatal ultrasound and molecular diagnosis of apert syndrome: case report with postmortem CT-scan and chondral plate histology. Fetal Pediatr Pathol. 1-12, 2020
Tan AP et al: Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. Childs Nerv Syst. 34(2):205-16, 2018
Werner H et al: Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. Childs Nerv Syst. 34(8):1563-71, 2018
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
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
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
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
Faro C et al: Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. Ultrasound Obstet Gynecol. 27(1):28-33, 2006
Robin NH et al: FGFR-related craniosynostosis syndromes. In GeneReviews® [Internet]. University of Washington, Seattle, 1993
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