• Home
  1. Home
  2. Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype
Scientific article
Case report
English

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

Contributors

Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André

Published in

Journal of pediatric orthopedics, vol. 27, no. 3, p. 266-269

Publication date

2007

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

UNIGE affiliation entities

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)

Identifiers

Journal ISSN

0271-6798
645views
0downloads

Technical informations

Creation

15/12/2014 13:52:00

First validation

15/12/2014 13:52:00

Update

14/03/2023 22:37:08

Status update

14/03/2023 22:37:08

Last indexation

30/10/2024 22:00:52
All rights reserved by Archive ouverte UNIGE and the University of Geneva
OpenAIRE Indexed & Validated