De Sanctis Cacchione Syndrome
From Anvita Health Wiki
Contents |
Pathology
- cerebral atrophy
- olivopontocerebellar atrophy
- associated neoplasms
Genetics
- phenotype may be displayed by patients with any form of xeroderma pigmentosum although most commonly occurs with complementation group D
- associated with defects in ERCC6
Clinical-manifestations
- xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia & sometimes neurologic complications
- other features:
