SPECTRUM OF ANOMALIES IN FANCONI ANEMIA
SPECTRUM OF ANOMALIES IN FANCONI ANEMIA
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DOI：
10.1136/jmg.19.6.412
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发表时间：
1982-01-01
影响因子：
4
通讯作者：
FRASER, FC
中科院分区：
文献类型：
--
作者：
GLANZ, A;FRASER, FC
The frequency of various anomalies was compared in probands with Fanconi anemia and their affected sibs. As probands are usually ascertained because of a characteristic array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.
