Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana

Am J Med Genet. 1985 Nov;22(3):521-9. doi: 10.1002/ajmg.1320220310.

Abstract

We are reporting on two Lehrerleut Hutterite sisters who have a syndrome of congenital shortness with mild spondylorhizomelic dwarfism; later failure to thrive, ie deceleration of weight gain presumably due to CNS-based severe feeding problems; a CNS defect, probably developmental (not biochemical) with normal prenatal brain growth but later deceleration from 50th to 2nd centile associated with severe mental retardation and decorticate disturbances of neurologic function; and possible renal involvement with terminal nephrotic syndrome. This seems to be a previously undescribed pleiotropic autosomal recessive trait.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / growth & development
  • Consanguinity*
  • Ethnicity
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Kidney / abnormalities*
  • Pedigree
  • Religion