Article
Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics - 1 Jun 2003
Zambrano Marlene, Nikitakis Nikolaos G, Sanchez-Quevedo M Carmen, Sauk John J, Sedano Heddie, Rivera Helen
Abstract excerpt
Vitamin D-dependent rickets type I (VDDRI) represents an autosomal recessive hereditary defect in vitamin D metabolism. Patients with VDDRI have mutations of chromosome 12 that affect the gene for the enzyme 1-alpha-hydroxylase, resulting in decreased levels of 1,25(OH)(2) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontanels, and pathologic...
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