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Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis
Author(s) -
Canún S.,
Lomelí R. M.,
Martínez R.,
Carnevale A.
Publication year - 1984
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.1399-0004.1984.tb00482.x
Subject(s) - polydactyly , prenatal diagnosis , medicine , autosomal recessive inheritance , variable expression , anatomy , dysostosis , fetus , pregnancy , congenital disease , biology , genetics , surgery , gene
A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.