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New lethal acrofacial dysostosis syndrome

✍ Scribed by Fryns, Jean-Pierre ;Kleckowska, Alice

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
111 KB
Volume
39
Category
Article
ISSN
0148-7299

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New lethal acrofacial dysostosis syndrom
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I read with interest the papers by Rodriquez et al. [1990] and F'ryns andKleckowska [1991] describing a lethal acrofacial dysostosis. These cases are similar to those described in 1987 by Hecht et al. in which two sibs had the same pattern of anomalies and one subsequently died of respiratory insuff

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A new autosomal dominant acrofacial dyso
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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,