Inheritance and variable expression in Rubinstein–Taybi syndrome
✍ Scribed by Oliver Bartsch; Wolfram Kress; Olga Kempf; Stanislav Lechno; Thomas Haaf; Ulrich Zechner
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 368 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligo
This report describes 11 patients with Rubinstein-Taybi syndrome (RTS) and patellar dislocation. The age at diagnosis of patellar dislocation ranged from birth to 16 years. Ten patients had chronic dislocations and 8 of 11 had bilateral patellar dislocations. Eight patients required surgical stabili