New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

G. Gillessen-Kaesbach*, P. Meinecke, C. Garrett, B. C. Padberg, H. Rehder, E. Passarge

*Corresponding author for this work
13 Citations (Scopus)

Abstract

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.

Original languageEnglish
JournalAmerican Journal of Medical Genetics
Volume45
Issue number4
Pages (from-to)511-518
Number of pages8
ISSN0148-7299
DOIs
Publication statusPublished - 1993

Research Areas and Centers

  • Research Area: Medical Genetics

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