en
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
ISSN of the journal0271-6798
525views
0downloads

Technical informations

Creation12/15/2014 1:52:00 PM
First validation12/15/2014 1:52:00 PM
Update time03/14/2023 10:37:08 PM
Status update03/14/2023 10:37:08 PM
Last indexation01/16/2024 3:40:10 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack