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  • Title: Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
    Author: Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y.
    Journal: Am J Med Genet; 1995 Mar 13; 56(1):6-9. PubMed ID: 7747786.
    Abstract:
    We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. These manifestations were similar to those seen in Lowry-Wood syndrome (LWS). He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases.
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