LONG-TERM FOLLOW-UP OF 2 SIBS WITH LARSEN SYNDROME POSSIBLY DUE TO PARENTAL GERM-LINE MOSAICISM
LONG-TERM FOLLOW-UP OF 2 SIBS WITH LARSEN SYNDROME POSSIBLY DUE TO PARENTAL GERM-LINE MOSAICISM
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DOI：
10.1002/ajmg.1320470212
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发表时间：
1993-08-15
期刊：
影响因子：
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通讯作者：
HIRSCHHORN, K
中科院分区：
文献类型：
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作者：
PETRELLA, R;RABINOWITZ, JG;HIRSCHHORN, K
拉森综合征是一种具有特征性面部改变、多发性关节脱位和骨骼畸形的异质性(常染色体显性或隐性)疾病。关于这种疾病的隐性形式的成人表现的数据很少被报道；因此，我们开始描述两个被认为影响常染色体隐性遗传拉森综合征的同胞，他们在婴儿和后来作为成年人进行评估。除了继发性关节改变和白内障的存在外，常染色体隐性遗传性拉森综合征儿童的改变也被注意到。评估三年后，这位姐姐生下了一个患有拉森综合征的女儿。这一事件增加了生殖系嵌合体作为该家族遗传模式的可能性。因此，在拉森综合征家系的遗传咨询中，必须考虑生殖系嵌合体，在这些家庭中，父母似乎都没有受到影响。这些患者还表明，尽管存在严重的骨骼和关节畸形，但通过仔细的骨科治疗可以获得良好的预后。(C)1993年Wiley-Liss，Inc.
Larsen syndrome is a heterogeneous (autosomal dominant or recessive) disorder of characteristic facial changes, multiple joint dislocations, and bone deformities. Few data on the adult presentation of the recessive form of this disorder have been reported; thus, we set out to describe two sibs thought to be affected with autosomal recessive Larsen syndrome who were evaluated as infants and later as adults. Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome were noted. Three years after evaluation, the sister gave birth to a daughter with Larsen syndrome. This occurrence raises the possibility of germ-line mosaicism as the mode of inheritance in this family. Thus, germ-line mosaicism must be considered in the genetic counseling of families with Larsen syndrome in which neither parent appears affected. These patients also illustrate that despite the severe skeletal and joint deformities, the prognosis can be good with careful orthopedic management. (C) 1993 Wiley-Liss, Inc.