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Abstract

Italian

The Proteus syndrome is a rare hamartoneoplastic disorder with multiple somatic manifestations. Involvement of the brain, calvarium and soft tissues of the face and neck is not a constant feature of this syndrome, but frequently reported. We present a case with some striking abnormalities. Brain anomalies seen in our case included marked hemimegalencephaly of the right hemisphere, dilated right ventricle, areas of pachygyria and white matter abnormalities. Marked asymmetry of the calvarium was seen with areas of hyperostosis, causing proptosis. Maxillary and mandibular dysmorphism with exostosis formation and unilateral condylar hyperplasia were also seen. Subcutaneous fatty and lymphangiomatous masses were seen in neck and face, accentuating the facial disfigurement.

Keywords

Proteus syndrome hemimegalencephaly craniofacial dysmorphism lymphangiomas

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The Proteus Syndrome: Cerebral,Cranial,Facial and Neck Manifestations

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