Atypical acrofacial dysostosis syndrome
β Scribed by Christianson, Arnold L. ;Kruger, Hester ;Dini, Laurette
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 226 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
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
We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical prefpostaxial acrofacial dysostosis, nosologically related to the Genee-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.
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,