Literature DB >> 1424243

Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.

M Le Merrer1, A David, F Goutieres, M L Briard.   

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.

Entities:  

Mesh:

Year:  1992        PMID: 1424243     DOI: 10.1111/j.1399-0004.1992.tb03236.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Acral dysostosis dyserythropoiesis syndrome.

Authors:  M Le Merrer; R Girot; P Parent; V Cormier-Daire; P Maroteaux
Journal:  Eur J Pediatr       Date:  1995-05       Impact factor: 3.183

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.