合計: 1 |
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PMID (PMCID) | ||
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10508989 |
MALE | Child |
Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. | ||
Satran D, Pierpont ME, Dobyns WB. Am J Med Genet. 1999;86(5):459-69. |
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We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-Loken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis. |