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Acrofacial Dysostosis syndromes

✍ Scribed by Rodríguez, José Ignacio ;Palacios, José ;Urioste, Miguel

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

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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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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,