✦ LIBER ✦
Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?
✍ Scribed by Vargas, Fernando Regla ;Pontes, Ricardo Lopes ;Llerena, Juan Clinton ;de Almeida, Jose Carlos Cabral
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 459 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.