Dayer Romain, Ceroni Dimitri, Bottani Armand, Kaelin André
Department of Paediatric Orthopaedics, Children's Hospital, Geneva, Switzerland.
J Pediatr Orthop. 2007 Apr-May;27(3):266-9. doi: 10.1097/BPO.0b013e3180340d6c.
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.
