rhizomelic dysplasia, Patterson-Lowry type
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.
MONDO:0018230
skeletal dysplasia
is_a
Patterson Lowry syndrome
related
Patterson-Lowry rhizomelic dysplasia
related
rhizomelic dysplasia Patterson Lowry type
related
rhizomelic dysplasia, Patterson-Lowry type
exact