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- W2066692893 abstract "We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable, affecting predominantly the radial ray. Variability extends from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in must affected individuals. Mandibulofacial dysostosis is a causally nonspecific malformation and as such represents an apparently monotopic developmental field defect. Its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect." @default.
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- W2066692893 date "1986-01-01" @default.
- W2066692893 modified "2023-09-25" @default.
- W2066692893 title "A new autosomal dominant acrofacial dysostosis syndrome" @default.
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- W2066692893 doi "https://doi.org/10.1002/ajmg.1320250618" @default.
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