Brachydactyly type A1 with short humerus and associated skeletal features
✍ Scribed by Didier Lacombe; Marie-Ange Delrue; Caroline Rooryck; Fanny Morice-Picard; Benoît Arveiler; Brigitte Maugey-Laulom; Stefan Mundlos; Annick Toutain; Jean-François Chateil
- Book ID
- 101451780
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 229 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an est
## Abstract We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings a