title: Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases.
abstract: We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The genetics of this disease can be satisfactorily explained only on the basis of autosomal recessive inheritance, a mode which has only once before been reported in the literature. The severity of certain features, which would be expected in a homozygous state, may help our understanding of the more usual X-linked form.
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications* / Q000151:congenital; D008297:Male; D010026:Osteosclerosis / Q000209:etiology*; D010375:Pedigree; D012279:Rickets / Q000150:complications / Q000151:congenital / Q000235:genetics*