Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity

Sharma, Anita K. ; Haldar, Ashutosh ; Phadke, Shubha R. ; Agarwal, S. S. (1994) Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity American Journal of Medical Genetics, 49 (3). pp. 274-277. ISSN 0148-7299

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Official URL: http://www3.interscience.wiley.com/journal/1105255...

Related URL: http://dx.doi.org/10.1002/ajmg.1320490306

Abstract

We describe a father and his daughter who had a unique pattern of preaxial brachydactyly, and unusual facial appearance. Both had short broad abducted thumbs and halluces. The second digits of both hands were also short and broad and those of feet were medially angulated. The radiographic findings were short first metacarpals and first metatarsals and hypoplastic phalanges of first two digits of hands and feet. A similar pattern of brachydactyly was described by Christian et al. [1972: Am J Hum Genet 24:694-701] and Mononen et al. [1992: Am J Med Genet 42:706-713]. Our patients differ from those described by Christian et al. in that they did not have any mental retardation and from those of Mononen et al. by the absence of short stature and epiphyseal and metaphyseal changes. The heterogeneity of this new type of brachydactyly remains to be resolved.

Item Type:Article
Source:Copyright of this article belongs to John Wiley and Sons, Inc.
Keywords:Dominant Preaxial Brachydactyly; Thumb Abduction; Hallux Varus
ID Code:215
Deposited On:17 Sep 2010 09:26
Last Modified:12 May 2011 03:55

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