TY - JOUR
T1 - Clinicopathological conference
T2 - Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure
AU - Chesney, R. W.
AU - Friedman, A. L.
AU - Breed, A. L.
PY - 1983
Y1 - 1983
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320140123
DO - 10.1002/ajmg.1320140123
M3 - Article
C2 - 6829606
AN - SCOPUS:0020673349
SN - 0148-7299
VL - 14
SP - 169
EP - 179
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -