Digito‐reno‐cerebral syndrome: confirmation of Eronen syndrome
- 1 October 1992
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 42 (4), 196-198
- https://doi.org/10.1111/j.1399-0004.1992.tb03236.x
Abstract
In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.Keywords
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