Familial occurrence of oligomeganephronia

Acta Pathol Jpn. 1985 Mar;35(2):449-57. doi: 10.1111/j.1440-1827.1985.tb00587.x.


Oligomeganephronia (OMN) is a rare, renal hypoplasia, consisting of a reduced number of hypertrophied nephrons. This disorder has been considered to be a congenital but not a genetic disease. We describe the first report, to the best of our knowledge, of familial cases of OMN; two male siblings ran rapidly downhill courses and died 11 and 8 days after birth, respectively. In addition, the two patients had similar multiple anomalies; microcephaly, prominent glabella, hypertelorism, antimongoloid slant, epicanthal folds, broad nose, cleft lip and palate, down-turned mouth, short philtrum, micrognathia, low set ears, hypospadias, and cryptorchism. Although the patients and the parents had normal G-banded karyotypes, 4p monosomy syndrome is suggested from clinical features. The implications of this are discussed briefly.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosomes, Human, 4-5
  • Heart Septal Defects / genetics
  • Humans
  • Infant
  • Male
  • Microcephaly / genetics
  • Monosomy
  • Nephrons / abnormalities*
  • Nephrons / embryology