title: Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
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.
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: J
authors.initials: J
authors.lastname: Tohyama
authors.forename: T
authors.initials: T
authors.lastname: Koeda
authors.forename: Y
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed; D009759:Nystagmus, Pathologic / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome