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New acrofacial dysostosis syndrome in 3 sibs

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

Book ID
102701788
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
538 KB
Volume
35
Category
Article
ISSN
0148-7299

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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,