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Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus*

1975; Wiley; Volume: 8; Issue: 4 Linguagem: Inglês

10.1111/j.1399-0004.1975.tb01502.x

1399-0004

R. Brian Lowry, Bradford J. Wood,

Ubiquitin and proteasome pathways

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X‐linked, or autosomal recessive in origin.