eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Thanatophoric Dysplasia: Follow-up

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

Follow-up

Further Inpatient Care

  • Admit patients with thanatophoric dysplasia (TD) to the neonatal ICU if survival beyond the immediate newborn period seems possible.

Further Outpatient Care

  • Outpatient care is indicated only in cases of long-term survival.

Transfer

  • Transfer to a long-term care facility or hospice may be required for infants in whom survival is prolonged.

Complications

  • Severe growth and developmental delay
  • Hydrocephalus
  • Seizures
  • Ventilator dependency
  • Auditory impairment
  • Joint contractures/Joint hypermobility 

Prognosis

  • Thanatophoric dysplasia is usually lethal within the first few days of life.
  • Death is due to respiratory failure.
  • Rare survival into early childhood has been reported in a 3.7-year-old female and a 4.7-year-old male.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to consider other skeletal dysplasias that can alter prognosis and recurrence risk in the differential diagnosis.
 
Acknowledgments

The authors and editors of eMedicine 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.



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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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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