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
Darouich S et al: Fetal skeletal dysplasias: radiologic-pathologic classification of 72 cases. Fetal Pediatr Pathol. 1-19, 2020
Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
Zhang J et al: Non-invasive prenatal sequencing for multiple mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
Milks KS et al: Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 47(2):134-45, 2017
Barros CA et al: Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med. 29(11):1725-30, 2016
Sahin S et al: A thanatophoric dysplasia type i case with a FGFR3 P.R248C mutation and survival beyond the neonatal period. Genet Couns. 27(4):513-7, 2016
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
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. 19(3):146-9, 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
Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
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
Darouich S et al: Fetal skeletal dysplasias: radiologic-pathologic classification of 72 cases. Fetal Pediatr Pathol. 1-19, 2020
Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
Zhang J et al: Non-invasive prenatal sequencing for multiple mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
Milks KS et al: Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 47(2):134-45, 2017
Barros CA et al: Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med. 29(11):1725-30, 2016
Sahin S et al: A thanatophoric dysplasia type i case with a FGFR3 P.R248C mutation and survival beyond the neonatal period. Genet Couns. 27(4):513-7, 2016
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
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. 19(3):146-9, 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
Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
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