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
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.