These manifestations should be included in the diagnosis and anticipatory guidance of children with SGS. Am.
Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome
✍ Scribed by Silengo, Margherita ;Ferrero, Giovanni Battista ;Tornetta, Lorella ;Cortese, Maria Grazia ;Canavese, Ferdinando ;D'Alonzo, Gabriella ;Papalia, Francesco
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 80 KB
- Volume
- 118A
- Category
- Article
- ISSN
- 0148-7299
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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
## 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