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.
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe
โ Scribed by Kitoh, Hiroshi; Nogami, Hiroshi; Hattori, Tadashi
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 16 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
We report on two cases of congenital unilateral anterolateral bowing and focal defect of the tibia associated with ipsilateral polydactyly of the great toe. Computed tomographic examination showed an unusual partial cleft of the tibia at the site of bowing. A long follow-up of one patient showed spontaneous resolution of the bowing without progression to pseudoarthrosis. These anomalies should be considered as a new entity related to the tibial developmental field. Am. J. Med. Genet. 73:404-407, 1997.
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