Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.
Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.
Mayatepek
E
E
Department of Pediatrics, Medical College of Ohio, Toledo 43699.
Kurczynski
T W
TW
Ruppert
E S
ES
Hennessy
J R
JR
Brinker
R A
RA
French
B N
BN
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy; D003394:Craniofacial Dysostosis / Q000150:complications / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome