Rhizomelic dysplasia, Patterson-Lowry type
MONDO:0011079Rhizomelic 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.
Also known as: rhizomelic dysplasia, Patterson-Lowry type, Patterson Lowry syndrome, Patterson-Lowry rhizomelic dysplasia, rhizomelic dysplasia Patterson Lowry type
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