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New lethal acrofacial dysostosis syndrome

✍ Scribed by Hecht, Jacqueline T.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
48 KB
Volume
42
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 insufficiency. This condition is distinct from the Nager syndrome. Our report and that of of Rodriquez et al. [1990] with 3 affected sibs confirm an autosomal recessive pattern of inheritance of this lethal acrofacial dysostosis.

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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,