Abstract
We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.
Original language | English |
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Pages (from-to) | 420-422 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 47 |
Issue number | 3 |
Publication status | Published - 1993 |
Keywords
- autosomal recessive inheritance
- meningocele
- mental retardation
- polydactyly
- renal cysts
- vermis agenesis
ASJC Scopus subject areas
- Genetics(clinical)