Proteus syndrome: report of a case with severe brain impairment and fatal course.
A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
Rizzo
R
R
Pediatric Clinic, University of Catania, Italy.
Pavone
L
L
Sorge
G
G
Parano
E
E
Baraitser
M
M
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000151:congenital*; D005877:Gigantism / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome