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Congenital skeletal abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
The international classification divides the skeletal dysplasias into two major groups: the osteochondrodysplasias (abnormal growth and development of cartilage and/or bone) and the dysostoses (malformations of individual bones, singly or in combination). The osteochondrodysplasias are further divided into Defects of growth of tubular bones and/or spine (e.g., achondroplasia), which are frequently referred to as chondrodystrophies.Disorganized development of cartilage and fibrous components of the skeleton (e.g., multiple cartilaginous exostoses).Abnormalities of density and/or cortical diaphyseal structure and/or metaphyseal modeling (e.g., osteogenesis imperfecta).
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Thanatophoric dysplasia (TD), one of the most common types of lethal skeletal dysplasia, is an osteochondrodysplasia resulting from a fibroblast growth factor receptor 3 gene (FGFR3) mutation on the short arm of chromosome 4. Since this disease has an autosomal dominant inheritance pattern caused by sporadic de novo mutations, it may be unrelated to a family history of skeletal disorders. FGFR3 has an important role in bone development by regulating chondrocyte differentiation and proliferation (1), and it’s mutations disturb progression of cerebral cortical development by activating the receptor tyrosine kinase (2).
Hospital incidence, management and direct cost of osteogenesis imperfecta in Spain: a retrospective database analysis
Published in Journal of Medical Economics, 2020
This study found a mean annual cost per admission of €2,571 that was associated to a mean annual cost per patient of €5,207, both increasing between 2000 and 2017. Studies evaluating the direct medical costs of OI are scarce and hardly comparable between different countries. One study developed in Western Australia (2000–2006) estimated an average admission cost for Osteochondrodysplasias of €2,958 (3,488 USD).33 The same study measured an average cost per admission that doubled in patients under 1 year of age, of €5,584 (6,584 USD).33
Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
Published in Annals of Medicine, 2021
Xiaomei Shi, Hui Tang, Jian Lu, Xiue Yang, Hongke Ding, Jing Wu
DTD (OMIM 222600) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2. The variant c.1020_1022delTGT (p.Val341del) has been previously reported and classified as pathogenic. The deletion of exon 2–3 has not been reported, but was predicted to be a disease-causing variant by in-silico prediction tools and classified as likely-pathogenic. Finally, the foetus was diagnosed with DTD by combined prenatal ultrasonography and whole exome sequencing (WES).