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Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis

✍ Scribed by S. Canún; R. M. Lomelí; R. Martínez; A. Carnevale

Book ID
119839550
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
452 KB
Volume
25
Category
Article
ISSN
0009-9163

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📜 SIMILAR VOLUMES

Absent tibiae—polydactyly—triphalangeal
Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?
✍ 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.