Hereditary Vitamin D Rickets: A Case Series in a Family
TLDR Three siblings with a genetic form of rickets showed different symptoms of the disease.
The document reports on a case series involving three siblings diagnosed with hereditary vitamin D-resistant rickets (HVDRR), an autosomal recessive disorder characterized by the body's resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). The clinical presentation of HVDRR typically includes severe early onset rickets, bowing of the lower extremities, short stature, and often alopecia. The siblings in this case series exhibited varied clinical findings associated with the disorder.
