Connexion
S'inscrire
Réinitialiser le mot de passe
Publier & Distribuer
Solutions d'édition
Solutions de distribution
Thèmes
Architecture et design
Arts
Business et économie
Chimie
Chimie industrielle
Droit
Géosciences
Histoire
Informatique
Ingénierie
Intérêt général
Linguistique et sémiotique
Littérature
Mathématiques
Musique
Médecine
Pharmacie
Philosophie
Physique
Sciences bibliothécaires et de l'information, études du livre
Sciences des matériaux
Sciences du vivant
Sciences sociales
Sport et loisirs
Théologie et religion
Études classiques et du Proche-Orient ancient
Études culturelles
Études juives
Publications
Journaux
Livres
Comptes-rendus
Éditeurs
Blog
Contact
Chercher
EUR
USD
GBP
Français
English
Deutsch
Polski
Español
Français
Italiano
Panier
Home
Journaux
Balkan Journal of Medical Genetics
Édition 21 (2018): Edition 2 (December 2018)
Accès libre
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Z Gucev
Z Gucev
,
G Kalcev
G Kalcev
,
N Laban
N Laban
,
Z Bozinovski
Z Bozinovski
,
N Popovski
N Popovski
,
A Saveski
A Saveski
,
B Daskalov
B Daskalov
,
D Plaseska-Karanfilska
D Plaseska-Karanfilska
et
V Tasic
V Tasic
| 31 déc. 2018
Balkan Journal of Medical Genetics
Édition 21 (2018): Edition 2 (December 2018)
À propos de cet article
Article précédent
Article suivant
Résumé
Article
Figures et tableaux
Références
Auteurs
Articles dans cette édition
Aperçu
PDF
Citez
Partagez
Article Category:
Case Report
Publié en ligne:
31 déc. 2018
Pages:
35 - 38
DOI:
https://doi.org/10.2478/bjmg-2018-0025
Mots clés
A dumbbell appearance
,
Kyphosis
,
Metatropic dysplasia
,
gene mutation
© 2018 Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N, Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1
Clinical photograph of the boy: thoracic kyphosis.
Figure 2
A) AP spine showing platyspondyly. Lateral spine showing kyphosis, narrow chest. The ribs are narrow posteriorly, but widened and irregular anteriorly and markedly sclerotic. There is a gibbous deformity. B) Short sacro-iliac notches. Hypoplasia of the bodies of iliac bones. The shape of the iliac bone is unique, a notch between the shortened iliac body and prominent crescent shaped iliac wing resembles a halberd. Shortened tubular bones with flared metaphyses. C) The chondroosseous junction is smooth at the knee, but there are cartilaginous remnants in the distal femora. Carpal ossification is significantly retarded. D) The middle and distal phalanges are short. Degenerative joint disease is found in the proximal interphalangeal joints. Hypoplastic/dysplastic carpal bones. Short metacarpals and phalanges with flared ends.
Figure 3
The c.2396C>T; p.Pro799Leu (P799L) mutation in the TPRV4 gene.