Lethal skeletal dysplasia due to activating mutations in fibroblast growth factor receptor 3 gene (FGFR3)
Divided into 2 main subtypes based on morphologic findings
Thanatophoric is Greek for death bearing
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
Xue Y et al: FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2(6):497-503, 2014
Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. Epub ahead of print, 2010
Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
Matsushita T et al: FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 18(2):227-40, 2009
Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
Tsutsumi S et al: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther. 24(4):420-4, 2008
Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003
Krakow D et al: Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. 21(5):467-72, 2003
Kuno T et al: Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocr J. 47 Suppl:S141-4, 2000
Cohen MM Jr: Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg. 27(6):451-5, 1998
Lethal skeletal dysplasia due to activating mutations in fibroblast growth factor receptor 3 gene (FGFR3)
Divided into 2 main subtypes based on morphologic findings
Thanatophoric is Greek for death bearing
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
Xue Y et al: FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2(6):497-503, 2014
Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. Epub ahead of print, 2010
Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
Matsushita T et al: FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 18(2):227-40, 2009
Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
Tsutsumi S et al: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther. 24(4):420-4, 2008
Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003
Krakow D et al: Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. 21(5):467-72, 2003
Kuno T et al: Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocr J. 47 Suppl:S141-4, 2000
Cohen MM Jr: Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg. 27(6):451-5, 1998
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