Significats de skeletal dysplasia en anglès

To date, there has been no curative therapy for this skeletal dysplasia.

Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks.

Enlarged hearts, high-altitude edemas, skeletal dysplasia, acute leukemia, sterility, skin cancer.

Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia.

Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus.

The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them.

In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes.

Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth.

Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death.

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.

Clinical manifestations and radiological investigations are crucial for the differential diagnosis in skeletal dysplasias.

Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis.

Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns.

The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth and malformations of bone and cartilage.

Delivery of sufficient enzyme to bone, especially avascular cartilage, to prevent or ameliorate the devastating skeletal dysplasias remains an unmet challenge.

Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems.