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

Citace:
KUKLÍK, M., MAŘÍK, I. DISPROPORTIONAL RHIZOMELIC AND MESOMELIC BONE DYSPLASIAS. DISORDERS OF CHAOTIC BONE GROWTH. Pohybové ústrojí: Pokroky ve výzkumu, diagnostice a terapii, 2015, roč. 22, č. 3- 4Supplementum, s. 26-30. ISSN: 2336-4777
Druh: ČLÁNEK
Jazyk publikace: eng
Anglický název: DISPROPORTIONAL RHIZOMELIC AND MESOMELIC BONE DYSPLASIAS. DISORDERS OF CHAOTIC BONE GROWTH
Rok vydání: 2015
Autoři: MUDr. Miloslav Kuklík CSc. , Doc. MUDr. Ivo Mařík CSc.
Abstrakt EN: 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.
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