fr
Article scientifique
Rapport de cas
Anglais

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

Publié dansJournal of pediatric orthopedics, vol. 27, no. 3, p. 266-269
Date de publication2007
Résumé

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.

Mots-clés
  • 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 (format ISO)
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
Fichiers principaux (1)
Article (Published version)
accessLevelRestricted
Identifiants
ISSN du journal0271-6798
526vues
0téléchargements

Informations techniques

Création15.12.2014 13:52:00
Première validation15.12.2014 13:52:00
Heure de mise à jour14.03.2023 22:37:08
Changement de statut14.03.2023 22:37:08
Dernière indexation16.01.2024 15:40:10
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack