Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?
We report on a 3-year-old boy with cartilaginous exostoses of the cranial sutures, rib hyperostosis, macrocephaly, metopic craniostenosis, epibulbar dermoid, hyperpigmented macules on the neck, focal fat deposition, and mild mental retardation with marked speech delay. Several of these manifestations were reported previously as an "unknown" by Thanos et al. [1977], with additional clinical information and a diagnosis of Proteus syndrome [Cohen, 1993].
Christianson
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Department of Human Genetics and Developmental Biology, University of Pretoria, South Africa.
Van Allen
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D000273:Adipose Tissue; D002675:Child, Preschool; D003398:Craniosynostoses; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D016715:Proteus Syndrome / Q000175:diagnosis*; D012272:Ribs / Q000002:abnormalities*