Autosomal recessive acrorenal syndrome

M Miltényi; A E Czeizel; L Balogh; Z Detre

doi:10.1002/ajmg.1320430506

Autosomal recessive acrorenal syndrome

Am J Med Genet. 1992 Jul 15;43(5):789-90. doi: 10.1002/ajmg.1320430506.

Authors

M Miltényi¹, A E Czeizel, L Balogh, Z Detre

Affiliation

¹ Department of Pediatrics, Semmelweis Medical University, Budapest, Hungary.

PMID: 1344975
DOI: 10.1002/ajmg.1320430506

Abstract

We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far.

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Foot Deformities, Congenital / genetics*
Genes, Recessive / genetics*
Hand Deformities, Congenital / genetics*
Humans
Kidney Failure, Chronic / genetics*
Kidney Failure, Chronic / pathology
Syndrome