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

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.