منابع مشابه
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...
متن کاملDiagnostic 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...
متن کاملSkeletal and Dental Features of Cleidocranial Dysplasia
1 Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences Nitte University, Deralakatte, Mangalore-575 018, Karnataka, India. 2 MAHE Institute of Dental Sciences and Hospital, Chalakkara, Pallor, Manipal University, Manipal, Karnataka, India. 3 Department of Periodontics, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, Mangalo...
متن کاملDysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have been reported. All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tub...
متن کاملFetal Skeletal Lethal Dysplasia: Case Report.
The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of org...
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ژورنال
عنوان ژورنال: Donald School Journal of Ultrasound in Obstetrics and Gynecology
سال: 2011
ISSN: 0973-614X,0975-1912
DOI: 10.5005/jp-journals-10009-1197