title: Familial occurrence of idiopathic infantile hypercalcemia.
abstract: Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. The inheritance and pathogenesis of IIH remains largely unknown, with only sporadic cases reported to date. This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. Although one affected patient demonstrated elevated 1,25-dihydroxyvitamin D(3) levels, no conclusions regarding the pathogenesis of this condition could be drawn.
authors.affiliation: Mater Misericordiae Hospital and Royal Children's Hospital, Brisbane, Queensland, Australia.
authors.forename: S J
authors.initials: SJ
authors.lastname: McTaggart
authors.forename: J
authors.initials: J
authors.lastname: Craig
authors.forename: J
authors.initials: J
authors.lastname: MacMillan
authors.forename: J R
authors.initials: JR
authors.lastname: Burke
mesh_terms: D000328:Adult; D002118:Calcium / Q000652:urine; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007223:Infant; D008297:Male; D014807:Vitamin D / Q000506:poisoning; D018980:Williams Syndrome / Q000235:genetics
chemical_list: D014807:Vitamin D; D002118:Calcium