[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]
- PMID: 521301
[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]
Abstract
A brother and a sister are reported, demonstrating the severe form of childhood idiopathic hypercalciuria associated with dwarfism, renal defects and bone lesions (rickets and osteoporosis). The family are Israeli Beduins from a small village with a highly inbred population. The parents who are first cousins, and the remaining 6 siblings are not affected. This suggests an autosomal recessive form of transmission for the trait.
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