| Autor: |
van Dorp DB; Department of Ophthalmology, Free University of Amsterdam, The Netherlands., Palan A, Kwee ML, Barth PG, van der Harten JJ |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1991 Jul 01; Vol. 40 (1), pp. 100-4. |
| DOI: |
10.1002/ajmg.1320400121 |
| Abstrakt: |
A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningo-encephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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