Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.
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.
Le Merrer
M
M
U.12 Unité de Recherche INSERM sur les Handicaps Génétiques de l'Enfant, Hôpital des Enfants-Malades, Paris, France.
David
A
A
Goutieres
F
F
Briard
M L
ML
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D012640:Seizures; D013577:Syndrome