𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome

✍ 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.


πŸ“œ SIMILAR VOLUMES


New lethal acrofacial dysostosis syndrom
✍ Fryns, Jean-Pierre ;Kleckowska, Alice πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 111 KB πŸ‘ 1 views
New lethal acrofacial dysostosis syndrom
✍ Hecht, Jacqueline T. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 48 KB πŸ‘ 1 views

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

Acrofacial dysostosis syndrome type Rodr
✍ David Sermer; Nada Quercia; Karen Chong; David Chitayat πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 158 KB

## Abstract A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484–489]. We report on a male fetus with mandibulofacial dysostosis, including phocomelia‐like upper limb deficiencies and lower limb anomalies which

A new autosomal dominant acrofacial dyso
✍ Reynolds, James F. ;Webb, Mary Jane ;Opitz, John M. ;Gorlin, Robert J. πŸ“‚ Article πŸ“… 1986 πŸ› John Wiley and Sons 🌐 English βš– 472 KB πŸ‘ 1 views

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,