Clinical identification of a human equivalent to the short ear (se) murine phenotype.

Mutations in the BMP-5 gene at the mouse short-ear locus alter size, shape, and number of many different skeletal elements, and greatly reduce the size of the external ear. The alterations in short-ear mice are confined to particular skeletal features and a human equivalent is not known. We report on 5 patients whose features fit into the clinical criteria of the EPS (ear, patella, short stature) syndrome characterized by very short external ears, small jaw, growth retardation, and different skeletal abnormalities including absent patellae. We postulate on clinical data and phenotype comparisons that some EPS cases might be a human equivalent to the short ear murine disorder.