Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
C M Armoura, D E Bulmanb, A G W Huntera
a Department of
Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road,
Ottawa, Ontario K1K 1N2, Canada, b Ottawa Hospital Research Institute and Division
of Neurology, Ottawa Hospital, 501 Smyth Road, Ottawa, Ontario K1H 8L6,
Canada
Correspondence to: Dr Hunter
Revised version received 1 November 1999;
Accepted for publication 29 November 1999
The brachydactylies are a group of conditions in which various
subtypes have been defined based upon the specific pattern of digital
bones involved. Type A1 brachydactyly is principally characterised by
maximal involvement of the middle phalanges. We report an extended
family with a mild brachydactyly A1 which was, except for some short
stature, not associated with any of the additional clinical findings
reported in several published families. While all the hand bones tended
to be small, the principal features of the affected members were
shortened middle and distal phalanges, proximal 1st phalanges, and 5th
metacarpals. The feet were similarly involved and tended to have a
broad, slightly adducted forefoot. The two affected children showed
multiple coned epiphyses. This paper provides a detailed description of
the family including the radiographic signs and metacarpophalangeal
profiles, which proved to be useful in distinguishing the mildly
affected persons.
Keywords: brachydactyly A1; metacarpophalangeal profile
© 2000 by J Med Genet
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