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 |
|---|---|
| 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)