## 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
✦ LIBER ✦
Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype
✍ Scribed by Leopoldo Zelante; Michele Germano; Michele Sacco; Savino Calvano
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 80 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
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Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.