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Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother

✍ Scribed by Ohzeki, Takehiko ;Hanaki, Keiichi ;Motozumi, Hiroko ;Ohtahara, Hiroko ;Shiraki, Kazuo ;Yoshioka, Kimiko

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
343 KB
Volume
46
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 are consistent with brachydactyly type 4‐A, which is a rare subtype and has not been adequately documented. Short stature was reported only in some cases of brachydactyly type A‐1, A‐6, C, and E, but not in the other subtypes. Our patients with type A‐4 brachydactyly also had short stature. Β© 1993 Wiley‐Liss, Inc.

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