Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.
case_report · Level V
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- Record sourced from PubMed, PMID 17414007.
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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.
Medical subject headings
- Diseases in Twins
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Tibia
Anatomy
- tibia
- foot
- hand