Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype

Abstract

Tibial hemimelia with ectrodactyly is reported for the first time in monozygotic female twins with a positive family history for limb anomalies. This very rare autosomal dominant condition is known to be associated with a highly variable phenotype, as illustrated by the distinct clinical presentations, despite identical genotype.