摘要: The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As are usually ascertained because a 'characteristic' array physical anomalies, the frequencies these specific may be overestimated probands, whereas sibs provide more accurate estimate. growth retardation, skin hyperpigmentation, radial ray deformities, reduction hypogenitalia, supernumerary thumbs were significantly lower than probands. Since 25% had no dysmorphic features, absence dysmorphism is not sufficient to rule out diagnosis.
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