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Significados de skeletal dysplasia en inglés

español
osteocondrodisplasia
catalán
osteocondrodisplàsia

Bone development disease that results in defective development of cartilage or bone.

osteocondrodisplasia
Sinónimos
Examples for "osteochondrodysplasias"
Examples for "osteochondrodysplasias"
1
Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias.
Pubmed
2
Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias.
Pubmed
3
These results provide direct evidence implicating PTHrP in normal skeletal development and serve to emphasize its potential involvement in human osteochondrodysplasias.
Pubmed
4
Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias.
Pubmed
1
The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination.
Pubmed
Uso de skeletal dysplasia en inglés
1
To date, there has been no curative therapy for this skeletal dysplasia.
Pubmed
2
Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks.
Pubmed
3
Enlarged hearts, high-altitude edemas, skeletal dysplasia, acute leukemia, sterility, skin cancer.
The Descent
4
Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia.
Pubmed
5
Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus.
Pubmed
6
The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them.
Pubmed
7
In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes.
Pubmed
8
Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth.
Pubmed
9
Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death.
Pubmed
10
Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones.
Pubmed
11
Clinical manifestations and radiological investigations are crucial for the differential diagnosis in skeletal dysplasias.
Pubmed
12
Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis.
Pubmed
13
Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns.
Pubmed
14
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth and malformations of bone and cartilage.
Pubmed
15
Delivery of sufficient enzyme to bone, especially avascular cartilage, to prevent or ameliorate the devastating skeletal dysplasias remains an unmet challenge.
Pubmed
16
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems.
Pubmed
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Translations for skeletal dysplasia