thanatophoric dysplasia

Summary

Summary: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.

Top Publications

  1. Hevner R. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol. 2005;110:208-21 pubmed
    b>Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation...
  2. Hyland V, Robertson S, Flanagan S, Savarirayan R, Roscioli T, Masel J, et al. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A. 2003;120A:157-68 pubmed
    ..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 ..
  3. Morita M, Nakanishi K, Kawai T, Fujikawa K. 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 dysplasia. Hum Pathol. 2004;35:403-11 pubmed
    ..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 ..
  4. Chen C, Chern S, Shih J, Wang W, Yeh L, Chang T, et al. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn. 2001;21:89-95 pubmed
    b>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...
  5. Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, et al. A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. Hum Mol Genet. 2012;21:5443-55 pubmed publisher
    ..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...
  6. Shung C, Ota S, Zhou Z, Keene D, Hurlin P. Disruption of a Sox9-?-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. Hum Mol Genet. 2012;21:4628-44 pubmed publisher
    ..Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the ..
  7. Tsai P, Chang C, Yu C, Cheng Y, Chang F. Thanatophoric dysplasia: role of 3-dimensional sonography. J Clin Ultrasound. 2009;37:31-4 pubmed publisher
    Fetal 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...
  8. Waller D, Correa A, Vo T, Wang Y, Hobbs C, Langlois P, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A:2385-9 pubmed publisher
    ..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)...
  9. Su W, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, et al. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature. 1997;386:288-92 pubmed
    ..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 ..

More Information

Publications93

  1. Li D, Liao C, Ma X. Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia. Int J Gynaecol Obstet. 2005;91:268-70 pubmed
  2. Nowroozi N, Raffioni S, Wang T, Apostol B, Bradshaw R, Thompson L. Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. Hum Mol Genet. 2005;14:1529-38 pubmed
    ..common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms, thanatophoric dysplasia (TD) I and II...
  3. Naski M, Wang Q, Xu J, Ornitz D. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet. 1996;13:233-7 pubmed
    ..as in the autosomal dominant human skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH) and thanatophoric dysplasia (TD)...
  4. Tavormina P, Rimoin D, Cohn D, Zhu Y, Shiang R, Wasmuth J. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet. 1995;4:2175-7 pubmed
  5. Bonaventure J, Gibbs L, Horne W, Baron R. The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. FEBS J. 2007;274:3078-93 pubmed
    ..mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII)...
  6. Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H. Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther. 2008;24:420-4 pubmed publisher
    We 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.
  7. Lievens P, Liboi E. 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 reticulum. J Biol Chem. 2003;278:17344-9 pubmed
    ..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...
  8. Khalil A, Pajkrt E, Chitty L. Early prenatal diagnosis of skeletal anomalies. Prenat Diagn. 2011;31:115-24 pubmed publisher
    ..To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management...
  9. Kimura T, Suzuki H, Ohashi T, Asano K, Kiyota H, Eto Y. The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas. Cancer. 2001;92:2555-61 pubmed
    ..growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal disorders such as thanatophoric dysplasia (TD)...
  10. Tavormina P, Shiang R, Thompson L, Zhu Y, Wilkin D, Lachman R, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995;9:321-8 pubmed
    b>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...
  11. De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, et al. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. Prenat Diagn. 2000;20:835-7 pubmed
    b>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...
  12. Wilcox W, Tavormina P, Krakow D, Kitoh H, Lachman R, Wasmuth J, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet. 1998;78:274-81 pubmed
    Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia (TD)...
  13. Yang Y, Li D. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. Fetal Diagn Ther. 2009;26:90-2 pubmed publisher
    b>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. Ten cases of TD 1 were identified prenatally by ultrasound...
  14. Dhouib M, Guirat N. [Lethal osteogenesis imperfecta. Prenatal diagnosis]. Presse Med. 2004;33:658-60 pubmed
    ..Molecular biology and genetic studies offer new possibilities of prenatal diagnosis, but ultrasonography remains the investigation of choice. It confirms the diagnosis by revealing an increase in bone transparency. ..
  15. Kumar M, Thakur S, Haldar A, Anand R. Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. J Clin Ultrasound. 2016;44:529-539 pubmed publisher
    ..Mild micromelia was seen in 19 cases and severe micromelia in 7 cases. Among lethal skeletal dysplasias, thanatophoric dysplasia was most common (six cases). Among nonlethal skeletal dysplasias, achondroplasia was seen in eight cases...
  16. Lauda Swieciak A, Moszczyńska K, Skórczewski J, Ludwikowski G, Szułczyński J, Tretyn A, et al. [Genetically-determined familial recurrent thanatophoric dysplasia]. Ginekol Pol. 2010;81:629-32 pubmed
    b>Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births...
  17. Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn. 1999;19:21-4 pubmed
    b>Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently...
  18. Brodie S, Kitoh H, Lipson M, Sifry Platt M, Wilcox W. Thanatophoric dysplasia type I with syndactyly. Am J Med Genet. 1998;80:260-2 pubmed
    We 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...
  19. Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Neuropathology. 2013;33:663-6 pubmed publisher
    b>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...
  20. Yang Y, Liu Y, Li D. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. Fetal Pediatr Pathol. 2012;31:128-33 pubmed publisher
    b>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...
  21. Brodie S, Kitoh H, Lachman R, Nolasco L, Mekikian P, Wilcox W. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. Am J Med Genet. 1999;84:476-80 pubmed
    ..The most common form of PLSD is thanatophoric dysplasia (TD), which has been divided into two types (TD1 and TD2)...
  22. Pannier S, Martinovic J, Heuertz S, Delezoide A, Munnich A, Schibler L, et al. Thanatophoric dysplasia caused by double missense FGFR3 mutations. Am J Med Genet A. 2009;149A:1296-301 pubmed publisher
    b>Thanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor. The most frequent mutations (p...
  23. McBrien A, Sands A, Paterson A, Tharmaratnam S, Thornton C. Common arterial trunk with thanatophoric dysplasia: a unique case. Fetal Pediatr Pathol. 2008;27:259-63 pubmed publisher
    We report a case of common arterial trunk with thanatophoric dysplasia. The skeletal dysplasia was diagnosed during fetal life. Following early induction of labour, there was a post-mortem diagnosis of type 2 common arterial trunk...
  24. Rousseau F, El Ghouzzi V, Delezoide A, Legeai Mallet L, Le Merrer M, Munnich A, et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet. 1996;5:509-12 pubmed
    ..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. ..
  25. Alvarez Manassero D, Manassero Morales G. [Cloverleaf skull and bilateral facial clefts]. Rev Chil Pediatr. 2015;86:357-60 pubmed publisher
    ..be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune...
  26. Stevenson D, Carey J, Byrne J, Srisukhumbowornchai S, Feldkamp M. Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A. 2012;158A:1046-54 pubmed publisher
    ..The most common diagnostic groups were osteogenesis imperfecta (OI; n = 40; 0.79 per 10,000), thanatophoric dysplasia (n = 22; 0.43 per 10,000), achondroplasia (n = 18; 0...
  27. Johnson A, Mokuolu O. Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation. J Natl Med Assoc. 2001;93:185-94 pubmed
    ..The characteristic features, differential diagnoses, etiologic postulates/current cytogenetic and molecular genetic findings of RSS are fully reviewed in the discussion. ..
  28. Chen C, Chang T, Lin M, Chern S, Su J, Wang W. 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 II. Taiwan J Obstet Gynecol. 2013;52:420-5 pubmed publisher
    To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2)...
  29. Mortier G, Rimoin D, Lachman R. The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol. 1997;27:447-51 pubmed
  30. De Biasio P, Ichim I, Scarso E, Baldi M, Barban A, Venturini P. Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. Prenat Diagn. 2005;25:426-8 pubmed
  31. Huang H, Li S, Lu S, Ge H, Sun L. Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR. Analyst. 2016;141:285-90 pubmed publisher
    ..The AF from four fetuses, each expressing a single gene disorder (achondroplasia, hypochondroplasia, thanatophoric dysplasia, or X-linked hypohidrotic ectodermal dysplasia), were analyzed...
  32. Lindy A, Basehore M, Munisha M, Williams A, Friez M, Writzl K, et al. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. Am J Med Genet A. 2016;170:1573-9 pubmed publisher
    b>Thanatophoric dysplasia is a type of short-limbed neonatal dwarfism that is usually lethal in the perinatal period...
  33. Montone R, Romanelli M, Baruzzi A, Ferrarini F, Liboi E, Lievens P. Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation. Int J Biochem Cell Biol. 2018;95:17-26 pubmed publisher
    ..are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively...
  34. Manikkam S, Chetcuti K, Howell K, Savarirayan R, Fink A, Mandelstam S. Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias. AJNR Am J Neuroradiol. 2018;39:380-384 pubmed publisher
    b>Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders...
  35. Kölble N, Sobetzko D, Ersch J, Stallmach T, Eich G, Huch R, et al. Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound Obstet Gynecol. 2002;19:92-8 pubmed
    ..Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings...
  36. Noronha L, Prevedello L, Maggio E, Serapião M, Torres L. [Thanatophoric dysplasia: report of 2 cases with neuropathological study]. Arq Neuropsiquiatr. 2002;60:133-7 pubmed
    We report two cases of thanatophoric dysplasia (TD) with detailed neuropathologic evaluation. One case was representative of TD type I and the other TD type II...
  37. Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, et al. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004;41:75-9 pubmed
  38. Chen J, Lee B, Williams I, Kutok J, Mitsiades C, Duclos N, et al. FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies. Oncogene. 2005;24:8259-67 pubmed
    ..growth factor receptor 3 (FGFR3) that sometimes may contain the activation mutations such as K650E thanatophoric dysplasia type II (TDII)...
  39. Hanprasertpong T, Hanprasertpong J, Dhanaworavibul K, Thammavichit T, Chandeying N. A case report on the antenatal three dimensional sonographic features of thanatophoric dysplasia. J Med Assoc Thai. 2009;92:857-60 pubmed
    b>Thanatophoric dysplasia (TD) is a well-known fatal skeletal dysplasia in fetal life. It can be usually diagnosed by two-dimensional (2D) ultrasonography...
  40. Tuncer O, Caksen H, Kirimi E, Kayan M, Atas B, Odabas D. A case of thanatophoric dysplasia type I associated with mandibular clefting. Genet Couns. 2004;15:95-7 pubmed
  41. Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet. 2001;104:277-81 pubmed
    ..clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively...
  42. Xie Y, Su N, Jin M, Qi H, Yang J, Li C, et al. Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. Hum Mol Genet. 2012;21:3941-55 pubmed publisher
    Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively...
  43. Ota S, Zhou Z, Romero M, Yang G, Hurlin P. HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. Hum Mol Genet. 2016;25:4227-4243 pubmed publisher
    ..Using a mouse model of Thanatophoric Dysplasia Type II (TDII) we show that both HDAC6 deletion and treatment with the small molecule HDAC6 inhibitor ..
  44. Kalache K, Lehmann K, Chaoui R, Kivelitz D, Mundlos S, Bollmann R. Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenat Diagn. 2002;22:404-7 pubmed
    A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported...
  45. Pokharel R, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, et al. Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. Biochem Biophys Res Commun. 1996;227:236-9 pubmed
    Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity...
  46. Hwang W, Ghadially F. Globular smooth-tubule aggregates in thanatophoric dwarfs. Ultrastruct Pathol. 1996;20:219-22 pubmed
    ..Continuity between the rough endoplasmic reticulum and smooth tubules in the aggregates was detected. Therefore it is suggested that smooth tubules in these aggregates derive by growth and extension from the rough endoplasmic reticulum...
  47. Lightfoot L. The ethical health lawyer. Incompetent decisionmakers and withdrawal of life-sustaining treatment: a case study. J Law Med Ethics. 2005;33:851-6 pubmed
  48. Donnelly D, McConnell V, Paterson A, Morrison P. The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. Ulster Med J. 2010;79:114-8 pubmed
    The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 ..
  49. Lee S, Cho J, Song M, Min J, Han B, Lee Y, et al. Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings. Korean J Radiol. 2002;3:113-24 pubmed
    ..During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article...
  50. Fink A, Hingston T, Sampson A, Ng J, Palma Dias R. Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. Pediatr Radiol. 2010;40 Suppl 1:S134-7 pubmed publisher
    We 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...
  51. Chang T, Wang Y, Liu A, Tung J. Thanatophoric dysplasia type I. Acta Paediatr Taiwan. 2001;42:39-41 pubmed
    b>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...
  52. Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 2009;192:48-51 pubmed publisher
    ..The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism...
  53. Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, et al. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?. Genet Couns. 2006;17:407-12 pubmed
    b>Thanatophoric dysplasia (TD) is a lethal dwarfism condition due to missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene...
  54. Meyer A, McAndrew C, Donoghue D. Nordihydroguaiaretic acid inhibits an activated fibroblast growth factor receptor 3 mutant and blocks downstream signaling in multiple myeloma cells. Cancer Res. 2008;68:7362-70 pubmed publisher
    ..are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes, Thanatophoric Dysplasia (TD) type I and II...
  55. Nikkels P, Stigter R, Knol I, van der Harten H. Schneckenbecken dysplasia, radiology, and histology. Pediatr Radiol. 2001;31:27-30 pubmed
    ..The absence of the lacunar space as described before was also observed in some chondrocytes in our case. This male fetus was the product of consanguineous parents of Mediterranean origin compatible with autosomal recessive inheritance...
  56. Lievens P, Zanolli E, Garofalo S, Liboi E. Cell adaptation to activated FGFR3 includes Sprouty4 up regulation to inhibit the receptor-mediated ERKs activation from the endoplasmic reticulum. FEBS Lett. 2009;583:3254-8 pubmed publisher
    The kinase activity of the thanatophoric dysplasia type II-fibroblast growth factor receptor 3 mutant (TDII-FGFR3) hampers its maturation...
  57. Martinez Frias M, de Frutos C, Bermejo E, Nieto M. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010;152A:245-55 pubmed publisher
    Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth ..
  58. De La Rocha A, Birch J, Schiller J. Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome. J Bone Joint Surg Am. 2012;94:e55 pubmed publisher
    ..We sought to confirm that this finding is common in patients with Larsen syndrome and unusual in patients with normal hips or idiopathic developmental dysplasia of the hip...
  59. Indu P, Poothiode U, Augustine J, Pillai S. Thanatophoric dysplasia: a case report and review of literature. Indian J Pathol Microbiol. 2007;50:589-92 pubmed
    ..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...
  60. Martínez Frías M, Egüés X, Puras A, Hualde J, de Frutos C, Bermejo E, et al. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. Am J Med Genet A. 2011;155A:197-202 pubmed publisher
    b>Thanatophoric dysplasia (TD) is a lethal form of short-limb skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull...
  61. Blaas H, Vogt C, Eik Nes S. Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. Ultrasound Obstet Gynecol. 2012;40:230-4 pubmed publisher
    Autopsies of fetuses with thanatophoric dysplasia (TD) have shown abnormal gyration of the temporal lobes. In addition, the head is relatively large compared with the abdomen...
  62. Adar R, Monsonego Ornan E, David P, Yayon A. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. J Bone Miner Res. 2002;17:860-8 pubmed
    ..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 (..
  63. Vasilj O, Miskovic B. Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. J Matern Fetal Neonatal Med. 2012;25:2786-8 pubmed publisher
    b>Thanatophoric dysplasia is a severe skeletal disorder with estimated frequency of 0.2-0.5 per 10,000 births. Affected infants die shortly after birth...
  64. Akercan F, Oncul Seyfettinoglu S, Zeybek B, Cirpan T. High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: case report. J Clin Ultrasound. 2012;40:231-3 pubmed publisher
    Placental chorioangioma is an angioma arising from chorionic tissue. Fetal thanatophoric dysplasia is a lethal skeletal dysplasia due to mutation of fibroblast growth factor receptor 3 gene...
  65. Khnykin D, Olsnes S. Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3. Growth Factors. 2006;24:111-9 pubmed
    ..region of fibroblast growth factor receptor 3 leads as germline mutation to the neonatal lethal syndrome thanatophoric dysplasia type I (TD1). As somatic mutation it has been found in cancer...
  66. Katsumata N, Kuno T, Miyazaki S, Mikami S, Nagashima Miyokawa A, Nimura A, et al. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. Endocr J. 1998;45 Suppl:S171-4 pubmed
    b>Thanatophoric dysplasia (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, relative macrocephaly, platyspondyly and reduced thoracic cavity...
  67. Chen C, Chern S, Chang T, Lin C, Wang W, Tzen C. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings. Prenat Diagn. 2002;22:736-7 pubmed
  68. van Ravenswaaij Arts C, Losekoot M. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. Ned Tijdschr Geneeskd. 2001;145:1056-9 pubmed
    ..Like a number of other skeletal dysplasias, among which hypochondroplasia and thanatophoric dysplasia, achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene...
  69. Yamada T, Sawai H, Nishimura G, Numabe H, Cho K, Minakami H. Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. Prenat Diagn. 2009;29:715-7 pubmed publisher
  70. Huang Z, Chen H, Blais S, Neubert T, Li X, Mohammadi M. Structural mimicry of a-loop tyrosine phosphorylation by a pathogenic FGF receptor 3 mutation. Structure. 2013;21:1889-96 pubmed publisher
    The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to ..
  71. Simsek M, Al Gazali L, Al Mjeni R, Bayoumi R. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia. Clin Biochem. 2003;36:151-3 pubmed
  72. Pfeifer G, Kennedy M. Understanding medical futility: two Texas cases illustrate the dilemmas for families, hospitals--and nurses. Am J Nurs. 2006;106:25-6 pubmed
  73. Tavormina P, Bellus G, Webster M, Bamshad M, Fraley A, McIntosh I, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999;64:722-31 pubmed
    ..mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1)...
  74. Varkey J, Jones R. Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. Ultrasound Obstet Gynecol. 2004;24:575-7 pubmed
    ..Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK...
  75. Kim S, Yun B, Song J, Kim S, Wang K. V-Y advancement flaps for scalp closure after acute cranial volume expansion. Ann Plast Surg. 2011;66:249-52 pubmed publisher
    ..The authors attribute these results to scalp closure using a mixture of V-V and V-Y flaps...
  76. Tonni G, Azzoni D, Ventura A, Ferrari B, Felice C, Baldi M. Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. Fetal Pediatr Pathol. 2010;29:314-22 pubmed publisher
    A case of thanatophoric dysplasia (TD) type I associated with severely increased nuchal translucency at first trimester screening for Down syndrome is reported...
  77. Sahinoglu Z, Uludogan M, Gurbuz A, Karateke A. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. Arch Gynecol Obstet. 2003;269:57-61 pubmed
    b>Thanatophoric dysplasia is the most common type of neonatal lethal osteochondrodysplasias, with an estimated frequency of nearly of 1 in 20,000 births...
  78. Li D, Liao C, Ma X, Li Q, Tang X. Thanatophoric dysplasia type 2 with encephalocele during the second trimester. Am J Med Genet A. 2006;140:1476-7 pubmed
  79. Pietryga M, Iciek R, Brazert M, Wender Ozegowska E, Brazert J. [Thanatoforic dysplasia--case report]. Ginekol Pol. 2010;81:55-60 pubmed
    The case report presents a prenatal diagnosis of a fetus with thanatophoric dysplasia. Characteristic features in this syndrome are: extremely short limbs with curved thigh bones, narrow chest, enlarged abdomen, prominent forehead, ..
  80. Cormier S, Delezoide A, Benoist Lasselin C, Legeai Mallet L, Bonaventure J, Silve C. Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations. Am J Pathol. 2002;161:1325-35 pubmed
    ..the femoral growth plates from fetuses carrying activating FGFR3 mutations (9 achondroplasia, 21 and 8 thanatophoric dysplasia types 1 and 2, respectively) and 14 age-matched controls by histological techniques and in situ ..
  81. Fieni S, Gramellini D, Vadora E. Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia. Gynecol Obstet Invest. 2002;54:122-4 pubmed
    We 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...
  82. Wattanasirichaigoon D, Charoenpipop D. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient. J Med Assoc Thai. 2006;89:1287-92 pubmed
    b>Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births...
  83. Lekovic G, Rekate H, Dickman C, Pearson M. Congenital cervical instability in a patient with camptomelic dysplasia. Childs Nerv Syst. 2006;22:1212-4 pubmed
    ..Most patients die of complications in infancy, although long-term survivors have been reported...
  84. Meinel K, Himmel D. [Status of ultrasound and roentgen diagnosis in prenatal detection of osteochondrodysplasias]. Zentralbl Gynakol. 1987;109:1303-13 pubmed
    ..In the prenatal diagnoses of thanatophoric dysplasia, asphyxiating thoracic dysplasia, chondrodysplasia punctata and achondroplasia we present our procedure ..