Thanatophoric Dysplasia Follow-up

  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Nov 6, 2009
 

Further Inpatient Care

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

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

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

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

  • If a fetus has thanatophoric dysplasia and if the pregnancy has proceeded past the period during which a therapeutic abortion can take place, discuss aggressive and nonaggressive management options frankly with the parents.
  • Resources for patients and caregivers include the following:

International Skeletal Dysplasia Registry

Web site: http://www.csmc.edu/3805.html

Phone: 1-800-233-2771

Little People of America Inc

Web site: http://www.lpaonline.org

Phone: 1-888-LPA-2001, 1-714-368-3689

The Magic Foundation

Web site: http://www.magicfoundation.org

Phone: 1-708-383-0808, 1-800-3-MAGIC-3

Resource list from the University of Kansas Medical Center

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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: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

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.

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 and Genetics, Director RSA, 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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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).
 
 
 
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