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H. Wiedemann, G. Burgio, J. Opitz (1986)
Encephalocraniocutaneous lipomatosis and Proteus syndrome.American Journal of Medical Genetics, 25
M. Cohen (1993)
Proteus syndrome: clinical evidence for somatic mosaicism and selective review.American journal of medical genetics, 47 5
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LIPOMA OF THE CORPUS CALLOSUMJournal of Neuropathology and Experimental Neurology, 19
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G. Ross, J. Miller, J. Persing, H. Urich (1989)
Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis.Neurofibromatosis, 2 2
H Budka (1974)
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R. Happle (1986)
Cutaneous manifestation of lethal genesHuman Genetics, 72
HL Wiedemann, GR Burgio (1986)
Letter to the Editor. Encephalocraniocutaneous lipomatosis and Proteus syndrome, 25
We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus‐like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome. © 1995 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jun 6, 1995
Keywords: ; ;
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