Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.
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.
Dayer
Romain
R
Department of Paediatric Orthopaedics, Children's Hospital, Geneva, Switzerland. romain.dayer@hcuge.ch
Ceroni
Dimitri
D
Bottani
Armand
A
Kaelin
André
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000671:Amputation, Surgical; D004200:Diseases in Twins / Q000235:genetics* / Q000601:surgery; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014430:Twins, Monozygotic