Isolated tibial hemimelia in sibs: An autosomal‐recessive disorder?
- 1 March 1984
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 17 (3) , 603-607
- https://doi.org/10.1002/ajmg.1320170308
Abstract
Isolated tibial hemimelia is generally considered to occur sporadically. We report on isolated tibial hemimelia in two sibs born to phenotypically normal parents and review a similar case from the literature. These cases suggest autosomal‐recessive inheritance. Whether isolated tibial hemimelia represents a discrete syndrome or an expression of a disorder with wider phenotypic variability remains unclear.Keywords
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