We report on the clinical manifestations in six affected individuals from a
four-generation family that segregates brachydactyly type D (BDD). All aff
ected individuals have either bilateral and symmetric or unilateral first d
istal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some
affected individuals also have a more generalized involvement of the apical
skeleton. However, other than first distal phalangeal hypoplasia, there is
no consistent pattern of associated skeletal involvement. Linkage analyses
were preformed between the BDD phenotype in this family and six loci known
to contain genes involved in apical skeletal patterning. No statistically
significant linkage was detected. (C) 1999 Wiley-Liss, Inc.