An Adult Case of Cockayne Syndrome without Sclerotic Angiopathy

We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood....

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Veröffentlicht in:	Internal Medicine 1997, Vol.36(8), pp.565-570
Hauptverfasser:	INDUE, Toshihiko, SANO, Nobuya, ITO, Yuji, MATSUZAKI, Yasuyuki, OKAUCHI, Yasuhiro, KONDO, Hideki, HORIUCHI, Noriaki, NAKAO, Katsuyuki, IWATA, Masayasu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Arteriosclerosis - etiology autosomal recessive disorder Biological and medical sciences Brain - pathology cachectic dwarfism Cockayne Syndrome - diagnosis Cockayne Syndrome - pathology Complex syndromes Fatal Outcome Female Humans intracranial calcifications Medical genetics Medical sciences photosensitivity progeria
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