Hereditary rickets revealed

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...

[Hereditary pseudo-vitamin D deficiency rickets].

Hereditary Pseudo-Deficiency Rickets or Vitamin D-Dependency Type I

Following the description in 1937 by Albright, Butler, and Bloomberg (1) of "rickets resistant to vitamin D," a number of observations were published, particularly by Van Crefeld and Arons (2), Fraser and Salter (3), and by Royer (4) which indicated that there was a variant of resistant rickets which differed from classical hereditary hypophosphatemic vitamin D-resistant rickets by its clinical...

Rickets

Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases.

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 osteomalac...