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[Hemihypertrophy, nevus sebaceous, multiple bone cysts and cerebroretinal angiomatosis: a complex phakomatosis].

作者信息

Goldschmidt H, Thiede G, Pfeiffer R A, Damaske E, Müller K M, Brill H

出版信息

Helv Paediatr Acta. 1977 Apr;31(6):487-98.

PMID:856772
Abstract

Report on a girl, who died at the age of 6 1/2 years having exhibited different dysplasias which are characteristic features of several phakomatoses: congenital cutaneous pigmentations, fibrolipoma of the scalp, hypertrophy of the right leg, multiple cysts of the long bones (fibrous dysplasia), and an aneurysma racemosum of the retina and mid-brain (syndrome of Bonnet-Blanc-Dechaume).

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