Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations

In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.

The management of skeletal dysplasia

Skeletal dysplasia (SD) is disorders of bone and cartilage development caused by genetic defects. It comprises more than 300 specific disorders[1]. Causative genes responsible for SD include those encoding the bone and cartilage matrix proteins, receptors and intracellular molecules involved in signal pathway of chondrocyte and osteoblast, specific transcription factors, enzymes involved in bon...

Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI

Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and...

Improvement Study for Household Refrigerator/Freezer with Bottom-Mounted Freezer

Diagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia

OBJECTIVE To review the practice of skeletal surveys in cases of suspected skeletal dysplasia. METHODS Retrospective review of records of patients with suspected skeletal dysplasia between December 1997 and December 2005. RESULTS A diagnosis of a specific skeletal dysplasia was reached in 155 out of a total of 285 suspected cases (54%). In 260 (91%), a record of radiological examination was...