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Digito‐reno‐cerebral syndrome: confirmation of Eronen syndrome
Author(s) -
Merrer M.,
David A.,
Goutieres F.,
Briard M. L.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03236.x
Subject(s) - phalanx , medicine , lateral ventricles , genetic syndromes , nosology , anatomy , pathology , pediatrics
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.