De la Chapelle dysplasia (Q84691): Difference between revisions
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Revision as of 10:02, 15 August 2026
Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_248590292 |
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| English | De la Chapelle dysplasia |
Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. |
