eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Thanatophoric Dysplasia: Treatment & Medication

Author: Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: Nov 6, 2009

Treatment

Medical Care

Inpatient care is necessary for thanatophoric dysplasia (TD).

  • If intubation is performed as aggressive treatment for respiratory distress, admission to a neonatal intensive unit is required.
  • If aggressive treatment is deferred, palliative treatment consists of keeping the infant warm, comfortable, and nourished.

Consultations

  • Geneticist and genetic counselor
  • Neurologist

Medication

  • Currently, drug therapy is not a component of care.
  • Medications may be indicated to treat concurrent medical conditions associated with thanatophoric dysplasia (TD).

More on Thanatophoric Dysplasia

Overview: Thanatophoric Dysplasia
Differential Diagnoses & Workup: Thanatophoric Dysplasia
Treatment & Medication: Thanatophoric Dysplasia
Follow-up: Thanatophoric Dysplasia
Multimedia: Thanatophoric Dysplasia
References
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References

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

  4. Chen CP, Chern SR, Wang W, Wang TY. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings. Ultrasound Obstet Gynecol. Mar 2001;17(3):272-3. [Medline].

  5. Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, et al. Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. Hum Mol Genet. Oct 1997;6(11):1899-906. [Medline].

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  9. Kolble N, Sobetzko D, Ersch J. Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound Obstet Gynecol. Jan 2002;19(1):92-8. [Medline].

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  24. Weber M, Johannisson T, Thomsen M, et al. Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. J Pediatr Orthop B. Jan 1998;7(1):1-9. [Medline].

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  26. Yuce MA, Yardim T, Kurtul M, et al. Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report. Clin Exp Obstet Gynecol. 1998;25(4):149-50. [Medline].

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Further Reading

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Keywords

thanatophoric dysplasia, TD, skeletal dysplasia, thanatophoric dwarfism, fatal skeletal dysplasia, short limb dwarfism, TD type I, TD type 1, TDI, TD1, TD type II, TD type 2, TDII, TD2

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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: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Ian Krantz, MD, Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia
Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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