Regressive spondylometaphyseal dysplasia

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Regressive spondylometaphyseal dysplasia?

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