Hutterite cerebro‐osteo‐nephrodysplasia: Autosomal recessive trait in a Lehrerleut Hutterite family from Montana

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Abstract
We are reporting on two Lehrerleut Hutterite sisters who have a syndrome of 1) congenital shortness with mild spondylorhizomelic dwarfism; 2) later failure to thrive, ie deceleration of weight gain presumably due to CNS‐based severe feeding problems; 3) 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 4) possible renal involvement with terminal nephrotic syndrome.This seems to be a previously undescribed pleiotropic autosomal recessive trait.

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