两名患有软骨发育不全和假性软骨发育不全双重杂合子的同胞。

Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

作者信息

Woods C G, Rogers J G, Mayne V

机构信息

Victorian Clinical Genetics Service, Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.

出版信息

J Med Genet. 1994 Jul;31(7):565-9. doi: 10.1136/jmg.31.7.565.

DOI:10.1136/jmg.31.7.565

PMID:7966194

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049981/

Abstract

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote.

摘要

我们报告了一个家庭，其中两个同胞同时患有软骨发育不全和假性软骨发育异常。母亲患有软骨发育不全，父亲患有假性软骨发育异常，他从自己的父亲那里遗传了这种疾病。两个孩子出生时都表现出典型的软骨发育不全症状。到1岁半时，他们出现了固定的腰椎后凸并伴有脊柱后凸畸形，并且有额外的X线改变，这对于单纯的软骨发育不全来说是不寻常的，提示假性软骨发育异常。随后，两个孩子都表现出了这两种疾病的特征性表现，并且生长情况比软骨发育不全预期的要差。X线片显示了这两种疾病显著的协同作用。两个同胞的MRI均证实了枕骨大孔处脑干受压。这可能是一个重要的并发症，在任何双杂合子中都应积极排查。