Auriculoosteodysplasia

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Retrieved
2021-01-23
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A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.

Epidemiology

The disorder has been observed in numerous members of two families.

Clinical description

Dysplasia of the radiocapitellar joint was a constant finding in all affected individuals.

Genetic counseling

Transmission is autosomal dominant.