Guala A, Tomà P, Liverani M E, Fresia A, Biroli E, Cerruti Mainardi P
Divisione di Pediatria e Centro Immaturi, Ospedale S. Andrea, USSL n. 45, Vercelli, Italia.
Pediatr Med Chir. 1991 Mar-Apr;13(2):179-86.
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.
本文描述了一例儿童型低磷酸酯酶症（维生素D抵抗性佝偻病的一种严重形式）的诊断过程及5年随访情况。家族研究发现了5名受影响亲属（父亲、姐姐、伯父、堂兄弟姊妹），其中2人有严重临床症状。该家族的遗传模式符合常染色体显性遗传。
