SUTURAL EXOSTOSES, RIB HYPEROSTOSES, CRANIOSYNOSTOSIS MENTAL-RETARDATION WITH FOCAL FAT DEPOSITION - PROTEUS SYNDROME

Citation
Al. Christianson et Mi. Vanallen, SUTURAL EXOSTOSES, RIB HYPEROSTOSES, CRANIOSYNOSTOSIS MENTAL-RETARDATION WITH FOCAL FAT DEPOSITION - PROTEUS SYNDROME, American journal of medical genetics, 66(2), 1996, pp. 150-153
Citations number
6
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
66
Issue
2
Year of publication
1996
Pages
150 - 153
Database
ISI
SICI code
0148-7299(1996)66:2<150:SERHCM>2.0.ZU;2-M
Abstract
We report on a 3-year-old boy with cartilaginous exostoses of the cran ial sutures, rib hyperostosis, macrocephaly, metopic craniostenosis, e pibulbar dermoid, hyperpigmented macules on the neck, focal fat deposi tion, and mild mental retardation with marked speech delay, Several of these manifestations were reported previously as an ''unknown'' by Th anes et al, [1977], with additional clinical information and a diagnos is of Proteus syndrome [Cohen, 1993]. (C) 1996 Wiley-Liss, Inc.