Rhizomelic dysplasia, Patterson-Lowry type

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Rhizomelic dysplasia Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses medial flattening of the proximal epiphyses and lateral bowing with medial cortical thickening of the proximal diaphyses) marked coxa vara with dysplastic femoral heads and brachimetacarpalia.

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 http://www.orphadata.org. Data version July 2024

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Rhizomelic dysplasia, Patterson-Lowry type?

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