Regressive spondylometaphyseal dysplasia
Name: |
Regressive spondylometaphyseal dysplasia
|
Description: |
A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.
|
ORPHAcode: |
448267
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|