[Hypophosphatasia: a family study].
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.
Guala
A
A
Divisione di Pediatria e Centro Immaturi, Ospedale S. Andrea, USSL n. 45, Vercelli, Italia.
Tomà
P
P
Liverani
M E
ME
Fresia
A
A
Biroli
E
E
Cerruti Mainardi
P
P
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
Ipofosfatasia: studio di una famiglia.