Hemihypertrophy, hemimegalencephaly, and polydactyly.
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.
Reardon
W
W
Department of Clinical Genetics, Hospital for Children, London, United Kingdom.
Harding
B
B
Winter
R M
RM
Baraitser
M
M
D001921:Brain / Q000002:abnormalities*; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D016715:Proteus Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D013576:Syndactyly / Q000235:genetics*