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A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations

✍ Scribed by Osvaldo Yujnovsky; Dante Ayala; Angel Vincitorio; Hercules Viale; Nadia Sakati; William L. Nyhan


Book ID
119838079
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
846 KB
Volume
6
Category
Article
ISSN
0009-9163

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Absent tibiae—polydactyly—triphalangeal
✍ Vargas, Fernando Regla ;Pontes, Ricardo Lopes ;Llerena, Juan Clinton ;de Almeida 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 459 KB

We report on a family in which the auto-soma1 dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.