Further Outpatient Care
Outpatient care is indicated only in cases of long-term survival.
Further Inpatient Care
Admit patients born with thanatophoric dysplasia to the NICU if survival beyond the immediate newborn period seems possible.
Transfer
Transfer to a long-term care facility or to hospice palliative care may be required for those affected infants in whom survival is prolonged.
Complications
Complications can include the following:
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Severe growth and developmental delay
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Severe neurological impairment - Hydrocephalus, seizure disorder
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Marked respiratory insufficiency - Ventilator dependency
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Auditory impairment
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Joint contractures/Joint hypermobility
Prognosis
Thanatophoric dysplasia is usually lethal within the first few days of life. Death is due to respiratory failure caused by marked respiratory insufficiency from reduced thoracic capacity and hypoplastic lungs and/or brainstem compression.
Rare survival into early childhood has been reported in a 3.7-year-old female and a 4.7-year-old male. [14]
Patient Education
Prenatally, if a fetus is diagnosed with thanatophoric dysplasia, options to discontinue or continue the pregnancy must be discussed with the parents by medical professionals.
If the pregnancy has proceeded beyond the gestational time during which a therapeutic abortion can safely be performed, discuss interventional and palliative medical approaches with the parents to enable planning for when the infant is born.
Genetic counseling can be used to discuss concerns with future family planning.
Resources for patients and caregivers are listed below:
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International Skeletal Dysplasia Registry - Phone: 1-800-233-2771
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Little People of America Inc - Phone: 1-888-LPA-2001, 1-714-368-3689
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The Magic Foundation - Phone: 1-708-383-0808, 1-800-3-MAGIC-3
Further resources are available here.
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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).
