Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome
β Scribed by Petit, Paul ;Moerman, Philippe ;Fryns, Jean-Pierre
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 260 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
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
## Abstract A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484β489]. We report on a male fetus with mandibulofacial dysostosis, including phocomeliaβlike upper limb deficiencies and lower limb anomalies which
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,