MIXED SCLEROSING BONE DYSPLASIA, SMALL STATURE, SEIZURE DISORDER, ANDMENTAL-RETARDATION - A SYNDROME

Authors
JURENKA SB VANALLEN MI
Citation
Sb. Jurenka et Mi. Vanallen, MIXED SCLEROSING BONE DYSPLASIA, SMALL STATURE, SEIZURE DISORDER, ANDMENTAL-RETARDATION - A SYNDROME, American journal of medical genetics, 57(1), 1995, pp. 6-9
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
57
Issue
1
Year of publication
1995
Pages
6 - 9
Database
ISI
SICI code
0148-7299(1995)57:1<6:MSBDSS>2.0.ZU;2-X
Abstract
We present a 40-year-old man with mental retardation, short stature, m inor anomalies, and seizures, who was found to have osteopoikilosis wi th melorheostosis (mixed sclerosing bone dysplasia, MSBD), Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by flu orescence in situ hybridization (FISH) of fibroblast cells, To our kno wledge, the association of MSBD and mental retardation has not been pr eviously reported. (C) 1995 Wiley-Liss, Inc.