Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000254:growth & development; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree; D012067:Religion