MULTIPLE EPIPHYSEAL DYSPLASIA WITH SMALL HEAD, CONGENITAL NYSTAGMUS, HYPOPLASIA OF CORPUS-CALLOSUM, AND LEUKONYCHIA TOTALIS - A VARIANT OF LOWRY-WOOD SYNDROME

Authors
YAMAMOTO T TOHYAMA J KOEDA T MAEGAKI Y TAKAHASHI Y
Citation
T. Yamamoto et al., MULTIPLE EPIPHYSEAL DYSPLASIA WITH SMALL HEAD, CONGENITAL NYSTAGMUS, HYPOPLASIA OF CORPUS-CALLOSUM, AND LEUKONYCHIA TOTALIS - A VARIANT OF LOWRY-WOOD SYNDROME, American journal of medical genetics, 56(1), 1995, pp. 6-9
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
56
Issue
1
Year of publication
1995
Pages
6 - 9
Database
ISI
SICI code
0148-7299(1995)56:1<6:MEDWSH>2.0.ZU;2-D
Abstract
We report on a boy with multiple epiphyseal dysplasia (MED), mild shor t stature, small head, mental retardation and congenital nystagmus ass ociated 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. (C) 1995 Wiley-Liss, Inc.