TY - JOUR
T1 - Regional Proteus syndrome and somatic mosaicism
AU - Smeets, E.
AU - Fryns, J. P.
AU - Cohen, M. M.
PY - 1994
Y1 - 1994
N2 - We report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose.
AB - We report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose.
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U2 - 10.1002/ajmg.1320510107
DO - 10.1002/ajmg.1320510107
M3 - Article
C2 - 8030665
AN - SCOPUS:0028349163
SN - 0148-7299
VL - 51
SP - 29
EP - 31
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -