Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis
- 1 February 1984
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 25 (2) , 182-186
- https://doi.org/10.1111/j.1399-0004.1984.tb00482.x
Abstract
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.Keywords
This publication has 3 references indexed in Scilit:
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- Prospects for Radiographic Intrauterine Diagnosis — The Syndrome of Thrombocytopenia with Absent RadiiNew England Journal of Medicine, 1973
- BILATERAL APLASIA OF THE TIBIA, POLYDACTYLY AND ABSENT THUMB IN FATHER AND DAUGHTERThe Journal of Bone and Joint Surgery. British volume, 1971