Reardon W, Harding B, Winter R M, Baraitser M
Department of Clinical Genetics, Hospital for Children, London, United Kingdom.
Am J Med Genet. 1996 Dec 11;66(2):144-9. doi: 10.1002/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R.
We present clinical and neuropathological details of a patient with hemihypertrophy and hemimegalencephaly who may have Proteus syndrome. The observation of polysyndactyly in the case indicates either that polysyndactyly is a rare manifestation in Proteus syndrome, or that a separate condition, mimicking Proteus syndrome and pursuing a similar clinical course, might exist.
我们报告了一名可能患有变形综合征的半身肥大和半侧巨脑症患者的临床及神经病理学细节。该病例中多指(趾)畸形的发现表明,多指(趾)畸形在变形综合征中是一种罕见表现,或者可能存在一种单独的病症,它模仿变形综合征并有着相似的临床病程。