Clinicopathological conference: Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure

McKusick (1978) cites Oxalosis I and II as autosomal recessive traits. Liban et al (1963) reported two sets of affected sibs with oxalosis (then considered one entity) who belonged to an inbred kindred of Tripolitanian Jews; however, Goodman in his study of genetic disorders among the Jewish people (1979) does not mention the condition. Lindenmayer (1970) gives an excellent review of familial occurrence of oxalosis and reported four cases belonging to three Swiss families tracing their descent over seven generations and multiple consanguineous unions from a single ancestral couple living in the second half of the 18th century. Thus, familial occurrence, equal sex ratio of the affected children, and unaffected but frequently consanguineous parents all indicate autosomal recessive inheritance. Carrier detection is unreliable, prenatal diagnosis as yet impossible, and suggestions of autosomal dominant inheritance remain unconfirmed. A female patient is discussed.