title: [Hypophosphatasia: a family study].
abstract: Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.
authors.affiliation: Divisione di Pediatria e Centro Immaturi, Ospedale S. Andrea, USSL n. 45, Vercelli, Italia.
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: P
authors.initials: P
authors.lastname: Tomà
authors.forename: M E
authors.initials: ME
authors.lastname: Liverani
authors.forename: A
authors.initials: A
authors.lastname: Fresia
authors.forename: E
authors.initials: E
authors.lastname: Biroli
authors.forename: P
authors.initials: P
authors.lastname: Cerruti Mainardi
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D013997:Time Factors
vernacular_title: Ipofosfatasia: studio di una famiglia.