Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome
β Scribed by Gollop, Thomaz R.
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 228 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We report on a 22βdayβold Tunisian boy born to consanguineous (firstβcousin) parents (Fβ=β1/16). The patient presents wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyl
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,
Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercru