Scientific article
Case report
English

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

Published inJournal of pediatric orthopedics, vol. 27, no. 3, p. 266-269
Publication date2007
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.

Keywords
  • Abnormalities, Multiple/radiography
  • Amputation
  • Diseases in Twins/genetics/surgery
  • Female
  • Foot Deformities, Congenital/genetics/radiography/surgery
  • Hand Deformities, Congenital/genetics
  • Humans
  • Infant
  • Pedigree
  • Phenotype
  • Tibia/abnormalities/radiography
  • Twins, Monozygotic
Citation (ISO format)
DAYER, Romain Olivier Pierre et al. Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. In: Journal of pediatric orthopedics, 2007, vol. 27, n° 3, p. 266–269. doi: 10.1097/BPO.0b013e3180340d6c
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0271-6798
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Technical informations

Creation15/12/2014 13:52:00
First validation15/12/2014 13:52:00
Update14/03/2023 22:37:08
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