Molecular pathology of Shprintzen–Goldberg syndrome
✍ Scribed by Kenjiro Kosaki; Daisuke Takahashi; Toru Udaka; Rika Kosaki; Morio Matsumoto; Shigeharu Ibe; Takeshi Isobe; Yoko Tanaka; Takao Takahashi
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 376 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:6
These manifestations should be included in the diagnosis and anticipatory guidance of children with SGS. Am.
## Abstract The Shprintzen–Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective‐tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a character