[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
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发表时间：
1992-04
期刊：
影响因子：
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通讯作者：
M. Tronnier;U. Froster-Iskenius;W. Schmeller;R. Happle;H. Wolff
中科院分区：
文献类型：
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作者：
M. Tronnier;U. Froster-Iskenius;W. Schmeller;R. Happle;H. Wolff
报告1例新生儿患鱼鳞状红皮病、股骨不对称短缩和扇状白内障的病例。角化过度的区域在2个月内消失，导致毛囊萎缩。临床表现和病程，以及组织学和超微结构特征，表明X连锁显性点状软骨发育不良(HApple)。由于存在正常的男性核型(46，XY)，母体配子的半染色单体突变和体细胞突变被认为是这种镶嵌表型的可能解释。
The case of a newborn boy with ichthyosiform erythroderma, asymmetrical shortening of the femur and sectorial cataract is reported. The hyperkeratotic areas cleared within 2 months, resulting in follicular atrophoderma. The clinical findings and course of the disease, and also the histological and ultrastructural features, indicate an X-linked dominant chondrodysplasia punctata (Happle). Since a normal male karyotype (46, XY) is present, a half-chromatid mutation of the maternal gamete and a somatic mutation are considered as possible explanations for this mosaic phenotype.