Rhizomelic dysplasia Patterson Lowry type
Alternate names[edit | edit source]
Patterson-Lowry rhizomelic dysplasia; Patterson Lowry syndrome
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Rhizomelic dysplasia Patterson Lowry type is a rare disease.
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