title: Hereditary vitamin D rickets: a case series in a family.
abstract: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.
authors.forename: Kumar
authors.initials: K
authors.lastname: Surender
authors.forename: I P S
authors.initials: IP
authors.lastname: Kochar
authors.forename: Ayesha
authors.initials: A
authors.lastname: Ahmad
authors.forename: Meenal
authors.initials: M
authors.lastname: Kapoor
mesh_terms: D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000175:diagnosis* / Q000188:drug therapy; D053098:Familial Hypophosphatemic Rickets / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D014815:Vitamins / Q000008:administration & dosage; D055815:Young Adult
chemical_list: D014815:Vitamins