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Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones Cover

Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
By: Z Gucev,  G Kalcev,  N Laban,  Z Bozinovski,  N Popovski,  A Saveski,  B Daskalov,  D Plaseska-Karanfilska and  V Tasic  
Open Access
|Dec 2018

Figures & Tables

Figure 1

Clinical photograph of the boy: thoracic kyphosis.
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.
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.
The c.2396C>T; p.Pro799Leu (P799L) mutation in the TPRV4 gene.
DOI: https://doi.org/10.2478/bjmg-2018-0025 | Journal eISSN: 2199-5761
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Language: English
Page range: 35 - 38
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
A dumbbell appearance,
Kyphosis,
Metatropic dysplasia,
gene mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 Z Gucev, G Kalcev, N Laban, Z Bozinovski, N Popovski, A Saveski, B Daskalov, D Plaseska-Karanfilska, V Tasic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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