Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Thanatophoric Dysplasia Treatment & Management

  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Nov 23, 2015
 

Medical Care

Inpatient care is necessary for newborns with thanatophoric dysplasia.

  • If intubation is performed to treat respiratory distress, admission to a neonatal intensive unit is required.
  • If treatment intervention is deferred, palliative care is essential to keep the infant warm, comfortable, and nourished.
Next

Consultations

See the list below:

  • Neonatologist
  • Pediatric pulmonologist
  • Pediatric neurologist
  • Geneticist and genetic counselor
  • Social work and psychological support services
Previous
 
 
Contributor Information and Disclosures
Author

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.

References
  1. Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, et al. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. Am J Med Genet A. 2011 Jan. 155A(1):197-202. [Medline].

  2. Naveen NS, Murlimanju BV, Kumar V, Pulakunta T. Thanatophoric dysplasia: a rare entity. Oman Med J. 2011 May. 26(3):196-7. [Medline]. [Full Text].

  3. Nikkel SM, Major N, King WJ. Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 2013 Dec. 1 (2):75-8. [Medline]. [Full Text].

  4. Baker KM, Olson DS, Harding CO, Pauli RM. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet. 1997 Jun 27. 70(4):427-36. [Medline].

  5. Cohen MM Jr. Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg. 2009 Mar. 20 Suppl 1:652-6. [Medline].

  6. Chitty LS, Mason S, Barrett AN, 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. 2015 Jul. 35 (7):656-62. [Medline].

  7. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [Medline].

  8. Blaas HG, Vogt C, Eik-Nes SH. 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 Feb 28. [Medline].

  9. Wang DC, Shannon P, Toi A, et al. Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. Ultrasound Obstet Gynecol. 2014 Nov. 44 (5):588-94. [Medline].

  10. Ulla M, Aiello H, Cobos MP, Orioli I, García-Mónaco R, Etchegaray A, et al. Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography. Fetal Diagn Ther. 2011. 29(3):238-47. [Medline].

  11. MacDonald IM, Hunter AG, MacLeod PM, MacMurray SB. Growth and development in thanatophoric dysplasia. Am J Med Genet. 1989 Aug. 33(4):508-12. [Medline].

  12. Karczeski B, Cutting GR. Thanatophoric Dysplasia. GeneReviews. Available at http://www.ncbi.nlm.nih.gov/books/NBK1366/. Accessed: September 1, 2009.

  13. Li D, Liao C, Ma X. Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia. Int J Gynaecol Obstet. 2005 Dec. 91(3):268-70. [Medline].

  14. Liboi E, Lievens P.M-J. Thanatophoric dysplasia. Orphanet encyclopedia. Available at http://www.orpha.net/data/patho/GB/uk-Thanatophoric-dysplasia.pdf. Accessed: September 1, 2009.

  15. Sahinoglu Z, Uludogan M, Gurbuz A. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. Arch Gynecol Obstet. 2003 Nov. 269(1):57-61. [Medline].

  16. Simsek M, Al-Gazali L, Al-Mjeni 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 Mar. 36(2):151-3. [Medline].

  17. Thanatophoric dysplasia. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=thanatophoricdysplasia. Accessed: September 1, 2009.

  18. Thanatophoric Dysplasia, Type I; TD1. Online Mendelian Inheritance in Man. Available at http://www.ncbi.nlm.nih.gov. Accessed: September 1, 2009.

  19. Thanatophoric Dysplasia, Type II; TD2. Online Mendelian Inheritance in Man. Available at http://www.ncbi.nlm.nih.gov. Accessed: September 1, 2009.

  20. Vidaeff AC, Lucas MJ, Strassberg MB, Spooner KI, Ramin SM. Dichorionic twins discordant for thanatophoric dysplasia managed with selective reduction at 20 weeks' gestation: a case report. J Reprod Med. 2005 Aug. 50(8):638-42. [Medline].

Previous
Next
 
Infant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.