title: Familial occurrence of oligomeganephronia.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D002905:Chromosomes, Human, 4-5; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009006:Monosomy; D009399:Nephrons / Q000002:abnormalities* / Q000196:embryology