哈特派社群中的黏多糖贮积症IV型（莫氏综合征）和低磷酸酯酶症
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred.
作者信息
Lowry R B, Snyder F F, Wesenberg R L, Machin G A, Applegarth D A, Morgan K, Carter R J, Toone J R, Holmes T M, Dewar R D
出版信息
Am J Med Genet. 1985 Nov;22(3):463-75. doi: 10.1002/ajmg.1320220304.
PMID:3933344
Abstract
A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia. Two other families each have one or the other of these diseases but not both. The three families are distantly related.
摘要
本文描述了一名患有莫尔基奥综合征（MPS IVA）的患者。他是哈特派兄弟会的成员，系谱分析显示先证者的近亲繁殖系数很高。先证者的同胞中分离出两种常染色体隐性疾病，即MPS IVA和婴儿型低磷酸酯酶症。另外两个家族分别患有这两种疾病中的一种，但并非两种都有。这三个家族关系较远。
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