Thanatophoric dysplasia: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Thanatophoric dysplasia | | Name = Thanatophoric dysplasia | | ||
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OMIM = 187600 | | OMIM = 187600 | | ||
MedlinePlus = | | MedlinePlus = | | ||
MeshID = D013796 | | MeshID = D013796 | | ||
}} | }} | ||
{{SI}} | {{SI}} | ||
{{ | {{CMG}} | ||
==Overview== | ==Overview== | ||
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==Incidence/Prevalence== | ==Incidence/Prevalence== | ||
This condition affects about 1 in 60,000 | This condition affects about 1 in 60,000 birth. | ||
==Diagnosis== | |||
'''Patient #1''' | |||
<gallery> | |||
Image: | |||
Thanatophoric-dwarf-001.jpg | |||
</gallery> | |||
'''Patient #2''' | |||
<gallery> | |||
Image: | |||
Thanatophoric-dwarf-101.jpg | |||
Image: | |||
Thanatophoric-dwarf-101.jpg | |||
</gallery> | |||
'''Patient #3:Cloverleaf skull''' | |||
<gallery> | |||
Image: | |||
Cloverleaf-skull-001.jpg | |||
</gallery> | |||
==See also== | ==See also== | ||
* [[fibroblast growth factor receptor-3]] | * [[fibroblast growth factor receptor-3]] | ||
==References== | |||
{{reflist|2}} | |||
{{WH}} | |||
{{WS}} | |||
==External links== | ==External links== | ||
{{Congenital malformations and deformations of musculoskeletal system}} | {{Congenital malformations and deformations of musculoskeletal system}} | ||
[[fi:Tanatoforinen dysplasia]] | [[fi:Tanatoforinen dysplasia]] | ||
Latest revision as of 13:03, 3 August 2012
| Thanatophoric dysplasia | |
| ICD-10 | Q77.1 |
|---|---|
| OMIM | 187600 |
| DiseasesDB | 29403 |
| MeSH | D013796 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.
Symptoms
Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Subtypes
Infants with type 1 thanatophoric dysplasia also have curved thigh bones and flattened bones of the spine (platyspondyly).
An unusual head shape called craniosynostosis ("cloverleaf skull") is seen with type 2 thanatophoric dysplasia.
Prognosis
The term thanatophoric is Greek for "death bearing". Infants with this condition are usually stillborn or die shortly after birth from respiratory failure; however, some children have survived into childhood with significant medical help. These children are severely mentally handicapped due to a variety of brain abnormalities and have difficulty breathing on their own.
Incidence/Prevalence
This condition affects about 1 in 60,000 birth.
Diagnosis
Patient #1
Patient #2
Patient #3:Cloverleaf skull
See also
References
External links