Patterson-Lowry rhizomelic dysplasia: a possible second example
Abstract
We present a possible example of Patterson-Lowry rhizomelic dysplasia. If so, this is only the second reported individual with this disorder and the first instance of its recognition in a child. Clinical features in this child are compared with the other described individual and differential diagnosis is discussed. Primary features include rhizomelic foreshortening most markedly affecting the arms, limitation of shoulder abduction, mild generalized foreshortening of the long bones, mild short stature, coxa vara, and specific radiological features.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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