Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To dat
Identical twins discordant for Sotos syndrome
β Scribed by Brown, W. Ted; Wisniewski, Krystina E.; Sudhalter, Vicki; Keogh, Maryellen; Tsiouris, John; Miezejeski, Charles; Schaefer, G. Bradley
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 39 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19981002)79:4<329::aid-ajmg17>3.0.co;2-t
No coin nor oath required. For personal study only.
β¦ Synopsis
The cause of Sotos syndrome is unknown but it usually occurs sporadically. Recent studies have shown no evidence of uniparental disomy. One set of concordant monozygotic twins has been reported. We have identified the Sotos syndrome in one of two 5-year-old male monozygotic twins. Our finding of discordance in these identical twins suggests that a postconceptual mutation, or epigenetic change and/or an environmental factor may be involved in the cause of Sotos syndrome.
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