Genomes and Genes
Summary: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Publications151 found, 100 shown here
- A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasiaMin Jin
Center of Bone Metabolism and Repair, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Dapital Hospital, Third Military University, Chongqing, China
Hum Mol Genet 21:5443-55. 2012..to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). Currently, there are no effective treatments for these skeletal dysplasia diseases...
- The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the USD K Waller
Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA
Am J Med Genet A 146:2385-9. 2008..36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths)...
- Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type IIChia Yi Shung
Shriners Hospitals for Children Portland, Portland, OR 97239, USA
Hum Mol Genet 21:4628-44. 2012..Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the ..
- Thanatophoric dysplasia: role of 3-dimensional sonographyPei Yin Tsai
Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan 70428, Taiwan
J Clin Ultrasound 37:31-4. 2009Fetal thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. Therefore, antenatal diagnosis of TD is mandatory in routine obstetrical care. However, because TD is relatively rare, prenatal detection is not an easy task...
- Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestationP De Biasio
Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
Prenat Diagn 20:835-7. 2000b>Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible...
- Early prenatal diagnosis of skeletal anomaliesAsma Khalil
University College Hospitals London NHS Foundation Trust, London, UK
Prenat Diagn 31:115-24. 2011..To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management...
- Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasiaW R Wilcox
Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
Am J Med Genet 78:274-81. 1998Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia (TD)...
- The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomasT Kimura
Department of Urology, Institute of DNA Medicine, Jikei University, School of Medicine, Tokyo, Japan
Cancer 92:2555-61. 2001..growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal disorders such as thanatophoric dysplasia (TD)...
- Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasiaM C Naski
Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
Nat Genet 13:233-7. 1996..as in the autosomal dominant human skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH) and thanatophoric dysplasia (TD)...
- Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cellsNakisa Nowroozi
Department of Psychiatry and Human Behavior, 2121 Gillespie, University of California at Irvine, Irvine, CA 92697, USA
Hum Mol Genet 14:1529-38. 2005..common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms, thanatophoric dysplasia (TD) I and II...
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina
Department of Biological Chemistry and Human Genome Research Center, University of California, Irvine 92717, USA
Nat Genet 9:321-8. 1995b>Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features similar to those seen in homozygous achondroplasia...
- Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasiaValentine J Hyland
Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
Am J Med Genet A 120:157-68. 2003..a lethal short-limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense ..
- Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasiaC P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
Prenat Diagn 21:89-95. 2001b>Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I (TD1) and one case of TD type II (TD2) are presented here...
- Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysisSeiji Tsutsumi
Department of Obstetrics and Gynecology, Yamagata University School of Medicine, Yamagata, Japan
Fetal Diagn Ther 24:420-4. 2008We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation.
- The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulumPatricia M J Lievens
Department of Neurological Sciences, University of Verona Medical School, 37134 Verona, Italy
J Biol Chem 278:17344-9. 2003..constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). The underlying mechanisms of how the activated FGFR3 causes TDII remains to be elucidated...
- Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasiaMitsuhiro Morita
Department of Orthopaedic Surgery, National Defense Medical College, Tokorozawa, Japan
Hum Pathol 35:403-11. 2004..from 57 reference autopsy cases (aged from 16 weeks of gestation to 91 years) and from 2 patients with thanatophoric dysplasia. In the reference cases, telomere length was significantly longer in growth plates obtained from the 10 ..
- Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasiaDongzhi Li
Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, China
Int J Gynaecol Obstet 91:268-70. 2005
- The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptorJacky Bonaventure
Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
FEBS J 274:3078-93. 2007..mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII)...
- The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesisRobert F Hevner
Department of Pathology Neuropathology, University of Washington School of Medicine, Harborview Medical Center, 325 Ninth Ave, Box 359791, Seattle, WA 98104, USA
Acta Neuropathol 110:208-21. 2005b>Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation...
- Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfismW C Su
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520 8023, USA
Nature 386:288-92. 1997..the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor ..
- Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type IP L Tavormina
Department of Biological Chemistry, University of California, Irvine 92717, USA
Hum Mol Genet 4:2175-7. 1995
- Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasiaN Kölble
Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland
Ultrasound Obstet Gynecol 19:92-8. 2002..Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings...
- Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduriaKazuki Okajima
Clinical and Molecular Genetics Unit, Institute of Child Health, London, United Kingdom
Cleft Palate Craniofac J 39:246-8. 2002A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented.
- Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type IChih Ping Chen
Taiwan J Obstet Gynecol 46:281-3. 2007
- Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotypeG Camera
Department of Pediatrics and Regional Center of Hand Surgery, San Paolo Hospital, Savona, Italy
Am J Med Genet 104:277-81. 2001..clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively...
- [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000]Anna Kruczek
Zakład Genetyki Medycznej Katedry Pediatrii Wydziału Lekarskiego Uniwersytetu Jagiellońskiego, 30 663 Krakow, ul Wielicka 265
Przegl Lek 59:137-9. 2002..Inheritance is autosomal dominant. The most common mutation C742T leads to substitution of arginine by cysteine in 248 position of polypeptide (R248C)...
- Ultrasound assessment of biometric trends in a case of thanatophoric dysplasiaS Fieni
Department of Gynecology, Obstetrics and Neonatology, University of Parma, Italy
Gynecol Obstet Invest 54:122-4. 2002We present a case of thanatophoric dysplasia diagnosed at the 21st week of gestation. Serial ultrasound was performed throughout pregnancy. The scans showed a distinctive pattern of development of the fetal long bones...
- Some chondrodysplasias with short limbs: molecular perspectivesM Michael Cohen
Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
Am J Med Genet 112:304-13. 2002..The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.
- FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulationE Monsonego-Ornan
Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel
FEBS Lett 528:83-9. 2002..with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. Fibroblast growth factor receptors ubiquitylation was found to be directly proportional to their ..
- Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localizationRivka Adar
ProChon Biotech, Ltd, Kiryat Weizmann, Science Park, Rehovot, Israel
J Bone Miner Res 17:860-8. 2002..These result in chronic FGFR3 hyperactivation and inhibition of bone growth. One such disorder, thanatophoric dysplasia, the most common form of sporadic, lethal dwarfism, is associated frequently with cysteine substitutions (..
- Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton typeLuitgard Neumann
Institute of Human Genetics and Children s Hospital, Charite Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany
Pediatr Radiol 33:786-90. 2003..in the FGFR3 coding region, suggesting that this type of platyspondylic chondrodysplasia is not a thanatophoric dysplasia variant...
- A central nervous system specific mouse model for thanatophoric dysplasia type IITi Lin
Laboratory of Genetics, National Institute on Aging, Baltimore Maryland, 21224 6814, USA
Hum Mol Genet 12:2863-71. 2003..Overall, these data indicate that the tissue-specific mouse model is an excellent system for studying the role of Fgfr3 in the developing CNS...
- Thanatophoric dysplasia: a case report and review of literatureP S Indu
Department of Pathology, Medical College, Kottayam
Indian J Pathol Microbiol 50:589-92. 2007..intervertebral spaces, bell-shaped chest, short ribs with flared ends which are features described in Thanatophoric dysplasia. This was confirmed by histopathological findings in the epiphyseal growth plate...
- Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2Karim D Kalache
Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Medical Faculty of the Humboldt University, Berlin, Germany
Prenat Diagn 22:404-7. 2002A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported...
- G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasiaN Katsumata
Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
Endocr J 45:S171-4. 1998b>Thanatophoric dysplasia (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, relative macrocephaly, platyspondyly and reduced thoracic cavity...
- Thanatophoric dysplasia type I with syndactylyS G Brodie
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA
Am J Med Genet 80:260-2. 1998We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes...
- Thanatophoric dysplasia type IT K Chang
Department of Pediatrics, Shalu Tung's General Hospital, No. 8, Cheng Kung West St, Shalu, Taichung 43304, Taiwan
Acta Paediatr Taiwan 42:39-41. 2001b>Thanatophoric dysplasia is a sporadic, nearly always lethal congenital skeletal dysplasia. It is characterized by shortening of the limbs, a severely small thorax, macrocephaly, and platyspondyly...
- Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patientDuangrurdee Wattanasirichaigoon
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
J Med Assoc Thai 89:1287-92. 2006b>Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births...
- Thanatophoric dysplasia type 2 with encephalocele during the second trimesterDongzhi Li
Am J Med Genet A 140:1476-7. 2006
- [Role of FGFs in osteogenesis and chondrogenesis]Norihiko Ohbayashi
Okazaki Institute for Integrative Bioscience, National Institutes of Natural Sciences
Nihon Rinsho 63:514-8. 2005
- Congenital cervical instability in a patient with camptomelic dysplasiaGregory P Lekovic
Division of Neurological Surgery, Barrow Neurological Institute, St Joseph s Hospital and Medical Center, Phoenix, AZ 85003, USA
Childs Nerv Syst 22:1212-4. 2006..Most patients die of complications in infancy, although long-term survivors have been reported...
- A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosisH S Wong
Department of Obstetrics and Gynaecology, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand
Fetal Diagn Ther 24:71-3. 2008To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia.
- Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimesterPierangela De Biasio
Prenat Diagn 25:426-8. 2005
- Transient dimerization and interaction with ERGIC-53 occur in the fibroblast growth factor receptor 3 early secretory pathwayPatricia M J Lievens
Division of Biochemistry, Department of Morphological and Biomedical Sciences, University of Verona Medical School, Verona, Italy
Int J Biochem Cell Biol 40:2649-59. 2008..We have previously shown that the increased kinase activity associated with FGFR3 bearing the thanatophoric dysplasia type II (TDII) mutation hampers its maturation, enabling the receptor to signal from the endoplasmic ..
- The ethical health lawyer. Incompetent decisionmakers and withdrawal of life-sustaining treatment: a case studyLance Lightfoot
Legal Department, Texas Children s Hospital, Houston, Texas, USA
J Law Med Ethics 33:851-6. 2005
- Effect of pathogenic cysteine mutations on FGFR3 transmembrane domain dimerization in detergents and lipid bilayersMin You
Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, Maryland 21218, USA
Biochemistry 46:11039-46. 2007..Here we study three pathogenic Cys mutations, associated with either thanatophoric dysplasia or achondroplasia, in the TM domain of fibroblast growth factor receptors 3 (FGFR3)...
- Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1Daisuke Harada
Department of Pediatrics, Okayama University, Graduate School of Medicine and Dentistry, 2 5 1 Shikata cho, Okayama 700 8558, Japan
Bone 41:273-81. 2007..severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with ..
- Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disordersBas W G van Rhijn
Department of Pathology, Josephine Nefkens Institute, Erasmus University, 3000 DR Rotterdam, The Netherlands
Eur J Hum Genet 10:819-24. 2002..e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome...
- The cytoplasmic tyrosine kinase Pyk2 as a novel effector of fibroblast growth factor receptor 3 activationApril N Meyer
Department of Chemistry and Biochemistry, Center for Molecular Genetics, University of California San Diego, La Jolla, CA 92093 0367, USA
J Biol Chem 279:28450-7. 2004..are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes thanatophoric dysplasia types I and II...
- PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutationYoshitaka Yamanaka
Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
J Bone Miner Res 18:1395-403. 2003..ACH chondrocytes exhibited marked apoptotic with downregulation of PTHrP expression. Rescue of these cells by PTHrP replacement implies a potential therapy for this disorder...
- Three- and four-dimensional ultrasound: new methods for evaluating fetal thoracic anomaliesR Achiron
Department of Obstetrics and Gynecology, Ultrasound Unit, The Chaim Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel
Ultrasound Obstet Gynecol 32:36-43. 2008..To study three- (3D) and four-dimensional (4D) ultrasound applications for the evaluation of fetal thoracic anomalies...
- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet 85:53-65. 1999..results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I. However, this mutation is most often compatible with survival into adulthood...
- FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylationLinda Gibbs
INSERM U781, Hopital des Enfants Malades, 149 rue de Sévres 75015 Paris, France
Biochim Biophys Acta 1773:502-12. 2007..have been implicated in a series of skeletal dysplasias including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The severity of these diseases ranges from mild dwarfism to severe dwarfism and to perinatal lethality, ..
- Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricansG A Meyers
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
Nat Genet 11:462-4. 1995..In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and hypochondroplasia...
- Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasiasD Krakow
Department of Obstetrics and Gynecology, Ahmanson Department of Pediatrics, Burns and Allen Cedars Sinai Research Institute, Los Angeles, California, USA
Ultrasound Obstet Gynecol 21:467-72. 2003..We aimed to determine whether three-dimensional (3D) imaging conferred any advantages over 2D imaging in these cases...
- Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasiaStéphanie Pannier
INSERM U781 Université Paris Descartes Hôpital Necker Enfants Malades 149 rue de Sèvres 75015, Paris, France
Biochim Biophys Acta 1792:140-7. 2009..activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation corresponding to the human Y373C thanatophoric dysplasia type I (..
- A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasiaA Winterpacht
Children s Hospital, University of Mainz, D 55101 Mainz, Germany
Physiol Genomics 2:9-12. 2000..with autosomal dominant human skeletal disorders such as hypochondroplasia, achondroplasia, and thanatophoric dysplasia. Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in ..
- Mouse models orthologous to FGFR3-related skeletal dysplasiasSteven G Brodie
Genetics of Development and Disease Branch, NIDDK, NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
Pediatr Pathol Mol Med 22:87-103. 2003..of mutations that correspond to the missense mutations identified in individuals with achondroplasia and thanatophoric dysplasia. These mouse models mimic the human condition and can be used for further studies to identify and ..
- Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findingsA Michelle Fink
Department of Medical Imaging, The Royal Children s Hospital, Flemington Road, Melbourne, Victoria, 3052, Australia
Pediatr Radiol 40:S134-7. 2010We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy...
- Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4K C Hart
Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla 92093 0367, USA
Oncogene 19:3309-20. 2000..in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas...
- Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysisYing na Liu
Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children s Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, China
J Matern Fetal Neonatal Med 24:186-8. 2011Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from other skeletal dysplasia in utero by ultrasonography...
- Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006)Yasemin Alanay
Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Am J Med Genet A 143:1159-68. 2007..4%), thanatophoric dysplasia (23.9%) and osteogenesis imperfecta (OI) (18.1%)...
- A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryosT Iwata
Medical Genetics Branch, National Human Genome Research Institute, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 9:1603-13. 2000..with the K644E mutation, which accurately reflects the embryonic onset of a neonatal lethal dwarfism, thanatophoric dysplasia type II (TDII)...
- Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromesM Michael Cohen
Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
J Craniofac Surg 20:646-51. 2009..of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde ..
- Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortexRachel E Thomson
Division of Cancer Sciences and Molecular Pathology, University of Glasgow, Beatson Laboratories for Cancer Research, Garscube Estate, Switchback Road, Glasgow, G61 1BD, UK
Neural Dev 4:4. 2009..Recently, the function of Fgf15 in antagonizing Fgf8 in the rostral signaling center was also reported. However, regulation of caudal area formation by Fgf signaling remains unknown...
- Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biologyGabriele Tonni
Guastalla Civil Hospital, Department of Gynecology and Obstetrics, Guastalla, Italy
Fetal Pediatr Pathol 29:314-22. 2010A case of thanatophoric dysplasia (TD) type I associated with severely increased nuchal translucency at first trimester screening for Down syndrome is reported...
- Generation of Fgfr3 conditional knockout miceNan Su
State Key Laboratory of Trauma, Burns and Combined Injury, Center of Bone Metabolism and Repair, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China
Int J Biol Sci 6:327-32. 2010..different types of chondrodysplasia syndromes including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD)...
- [Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]Ahlem Lahmar-Boufaroua
Service d anatomie et cytologie pathologique, Hôpital Farhat Hached, Sousse
Tunis Med 87:127-32. 2009..The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism...
- AchondrogenesisRaj P Kapur
Department of Laboratories, Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
Pediatr Dev Pathol 10:253-5. 2007..The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias...
- The scapula as a window to the diagnosis of skeletal dysplasiasG R Mortier
Department of Medical Genetics, University Hospital of Gent, De Pintelaan 185, B 9000 Gent, Belgium
Pediatr Radiol 27:447-51. 1997....
- Familial acanthosis nigricans due to K650T FGFR3 mutationDavid R Berk
Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA
Arch Dermatol 143:1153-6. 2007..of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome).
- Skeletal dysplasias: 38 prenatal casesI Witters
Center for Human Genetics, University of Leuven, Belgium
Genet Couns 19:267-75. 2008..To assess the prenatal diagnosis of skeletal dysplasias in a single center over a ten-years period...
- Postnatally diagnosed agenesis of corpus callosum in fetusesTanya Todorova Kitova
1Department of Anatomy, Histology and Embryology, Medical University of Plovdiv, Plovdiv, Bulgaria
Fetal Pediatr Pathol 33:239-43. 2014..To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC...
- FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1Yu Yang
Department of Obstetrics and Gynecology, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children s Medical Center, Guangzhou Medical College, Guangzhou, China
Fetal Diagn Ther 26:90-2. 2009b>Thanatophoric dysplasia type 1 (TD 1) is typically a lethal dwarfism. We report our findings of fibroblast growth factor receptor 3 (FGFR3) mutations in Chinese cases of TD 1.
- Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasiaMasaki Matsushita
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
PLoS ONE 8:e81569. 2013..cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH...
- Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysisDeborah Krakow
Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
Am J Med Genet A 146:1917-24. 2008..The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases...
- Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)F Rousseau
Unité de Recherches sur les Handicaps Génétiques de I Enfant INSERM U 393, CNRS ER 88, Paris, France
Hum Mol Genet 5:509-12. 1996..Our results suggest that TD1 is a genetically homogeneous condition and give additional support to the view that newly created cysteine residues in the extracellular domain of the protein play a key role in the severity of the disease...
- Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type IIChih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
Taiwan J Obstet Gynecol 52:420-5. 2013To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2).
- Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongueDiclehan Orhan
Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 50:395-9. 2008..In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, ..
- New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profilingLaurent Schibler
Unité U781, Institut National de la Sante et de la Recherche Medicale, Université Paris Descartes Hôpital Necker, Paris, France
PLoS ONE 4:e7633. 2009..gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia...
- Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotypeG A Bellus
Department of Dermatology, University of Colorado School of Medicine, Denver, CO 80262, USA
Am J Hum Genet 67:1411-21. 2000..activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and ..
- A case of thanatophoric dysplasia type I associated with mandibular cleftingO Tuncer
Genet Couns 15:95-7. 2004
- A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitorsC Li
Genetics of Development and Diseases Branch, 10 9N105, National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, 10 Center Drive, Bethesda, MD, USA
Hum Mol Genet 8:35-44. 1999..receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. To study the function of FGFR3 in bone growth and to create animal models for the FGFR3-related ..
- [Lethal osteogenesis imperfecta. Prenatal diagnosis]M Dhouib
Service de Gynecologie Obstetrique, Hôpital régional de Maharès, Tunisie
Presse Med 33:658-60. 2004..Osteogenesis imparfecta (OI) comprises a group of disorders principally affecting type I collagen, which result in increased bone fragility. Lethal forms are rare and are characterised by micromelia with malformation of the limbs...
- Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasiaJ J Varkey
Department of Paediatrics, Wexham Park Hospital, Slough, Berkshire, United Kingdom
Ultrasound Obstet Gynecol 24:575-7. 2004..Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK...
- Molecular basis for the treatment of achondroplasiaYoshitaka Yamanaka
Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
Horm Res 60:60-4. 2003..we analyzed apoptosis using a chondrogenic cell line, ATDC5, expressing the FGFR3 mutants causing ACH and thanatophoric dysplasia, which is a more severe neonatal lethal form comprising type I and type II...
- FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignanciesJing Chen
Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
Oncogene 24:8259-67. 2005..growth factor receptor 3 (FGFR3) that sometimes may contain the activation mutations such as K650E thanatophoric dysplasia type II (TDII)...
- Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cisRenate Marquis-Nicholson
Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand
Sultan Qaboos Univ Med J 13:80-7. 2013b>Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia...
- Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutationsS G Brodie
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
Am J Med Genet 84:476-80. 1999..The most common form of PLSD is thanatophoric dysplasia (TD), which has been divided into two types (TD1 and TD2)...
- Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysisUgo E Pazzaglia
Orthopaedic Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy
Skeletal Radiol 43:1205-15. 2014..Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gene mutation and interpolation of mechanical factors on spine and long bones dysmorphism...
- Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findingsChih Ping Chen
Prenat Diagn 22:736-7. 2002
- High frequency of FGFR3 mutations in adenoid seborrheic keratosesChristian Hafner
Department of Dermatology, University of Regensburg, Regensburg, Germany
J Invest Dermatol 126:2404-7. 2006FGFR3 germline mutations cause autosomal dominant skeletal disorders including achondroplasia, thanatophoric dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans, and Crouzon syndrome...
- Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR resultsH Sawai
Department of Obstetrics and Gynaecology, Hyogo College of Medicine, Japan
Prenat Diagn 19:21-4. 1999b>Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently...
- Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reportsYu Yang
Department of Obstetrics and Gynecology, Guangzhou Women and Childrens Medical Center, Guangzhou Medical College, Guangzhou, China
Fetal Pediatr Pathol 31:128-33. 2012b>Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4...
- Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type IKyoko Itoh
Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Sciences, Kyoto, Japan
Neuropathology 33:663-6. 2013b>Thanatophoric dysplasia is a lethal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. We report a female case of thanatophoric dysplasia type I (TD1) with FGFR3 mutation...
- Thanatophoric dysplasia: autopsy findings over a 25-year periodChristina Vogt
Department of Pathology and Medical Genetics, St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway
Pediatr Dev Pathol 16:160-7. 2013The aim of our study was to retrospectively assess morphological findings in thanatophoric dysplasia, particularly, in how many cases were cerebral manifestations with temporal lobe dysplasia identified...
- Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomyMichael B Bober
Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Am J Med Genet A 158:2336-41. 2012..complex have been described with abnormal pulmonary function and infants with thanatophoric dysplasia have similar abnormal pulmonary anatomy...
- Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutationCristina M Philpott
Department of Neuroradiology, The Hospital for Sick Children, Toronto, ON, Canada
Pediatr Radiol 43:1190-5. 2013b>Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations...
- The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndromeRafael Lima Pedro
Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Brazil
Gen Dent 59:e206-9. 2011..Her condition was initially diagnosed as thanatophoric dysplasia by her pediatrician...
- Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseAnne Goriely
Weatherall Institute of Molecular Medicine, University of Oxford, UK
Am J Hum Genet 90:175-200. 2012..A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and Costello syndrome (HRAS), which we collectively term "paternal age effect" (PAE) disorders, ..
- Prenatal third trimester sonographic behavior of a thanatophoric dwarfsAdekunle Y Abdulkadir
Department of Radiology
J Prenat Med 2:42-6. 2008b>Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births...
- DYSFUNCTIONAL FGFR SIGNALING IN CRANIOSYNOSTOSISRobert Friesel; Fiscal Year: 2002..In addition, several dwarfing syndromes, achondroplasia, thanatophoric dysplasia types I and II, and hypochondroplasia were shown to be associated with mutations in FGFR-3...
- FGF RECEPTOR SIGNALING IN BONE DEVELOPMENTJoseph Schlessinger; Fiscal Year: 2009..for a variety of bone and skeletal disorders including Crouzon, Apert, Jackson- Weiss, achondroplasia and thanatophoric dysplasia syndromes...
- SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENTRaj Kapur; Fiscal Year: 2005..The results of this study will further our understanding of normal enteric neurodevelopment and congenital disorders of intestinal motility. ..
- Regulation of Laminar Fate in Cerebral CortexRobert Hevner; Fiscal Year: 2006..If molecular fates are aEered in heterochronic or Rein mutant cortex, this would suggest that certain aspects of laminar fate can be regulated post-mitotically. ..
- Prenatal Ultrasound And Birth DefectsDOROTHY WALLER; Fiscal Year: 2008..Estimates of sensitivity and specificity will be calculated for each of 38 different categories of malformations. [unreadable] [unreadable] [unreadable]..
- Signaling and targeting of FGFR1 fusions in 8p11 myeloproliferative syndromeJing Chen; Fiscal Year: 2010..In summary, this proposal will provide detailed information about signaling and transforming properties of FGFR1 fusions, and explore therapeutic strategies to treat FGFR1-associated malignancies. ..