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Familial syndactyly type III—report of a large pedigree
Author(s) -
McKiernan M. V.,
McCann J. J.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03895.x
Subject(s) - syndactyly , pedigree chart , genetics , phenotype , variable expression , dysostosis , biology , medicine , congenital disease , gene
McKiernan MV, McCann JJ. Familial syndactyly type III—report of a large pedigree. Clin Genet 1993: 44: 270–271. © Munksgaard, 1993 We present a pedigree containing 14 cases of familial syndactyly of the ring and little finger (Type III syndactyly). Three of these were treated surgically in this unit, and a fourth had previously been treated elsewhere by the senior author of this paper. Analysis of the pedigree confirms the autosomal dominant nature of the genetic defect, while clinical study reveals variable phenotypical expression. This is one of the largest pedigrees yet reported for this variety of syndactyly.