DISPROPORTIONAL RHIZOMELIC AND MESOMELIC BONE DYSPLASIAS. DISORDERS OF CHAOTIC BONE GROWTH

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F49777513%3A23310%2F15%3A43927273" target="_blank" >RIV/49777513:23310/15:43927273 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

DISPROPORTIONAL RHIZOMELIC AND MESOMELIC BONE DYSPLASIAS. DISORDERS OF CHAOTIC BONE GROWTH

Original language description

Disproportionate short stature is a common feature of skeletal dysplasias. Adequate diagnosis of skeletal dysplasias, only in some cases, can be made on the basis of prenatal ultrasound aprior to the third semester. We recognised rhizomelic dysplasias, which involves shortening of the proximal segments (upper arms and legs). We demonstrate mesomelic dysplasias too, when middle segments (forearm and lower legs) are shortener to the normal population. The skeletal changes in both groups are systemic and symmetric. There are acromelic dysplasias – when acromelic shortening affects the hands and feet, these are not included in our communication.From the diagnostic point of view for a fetus or neonate anteroposterior (AP) and lateral X-rays of the whole body should be carried out. For older patients, a radiological skeletal survey is recommended. It includes lateral views of the skull and spine, AP views of the thorax, pelvis, left hand and the long bones of one side. After epiphyseal closure the rentgenologic diagnosis is impossible. Measurements of arm span and sitting height (upper: lower body segment ratio) are needed to detect mild degrees of disproportionate short stature. Some bone dysplasias indicate strong phenotype – genotype correlation. DNA analysis provide the basis for prenatal diagnosis.

Czech name

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Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Pohybové ústrojí: Pokroky ve výzkumu, diagnostice a terapii

ISSN

2336-4777

e-ISSN

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Volume of the periodical

22

Issue of the periodical within the volume

3- 4Supplementum

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

26-30

UT code for WoS article

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EID of the result in the Scopus database

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