828 ABNORMAL CARTILAGE COLLAGENS IN ACHONDROGENESIS II
نویسندگان
چکیده
منابع مشابه
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examina...
متن کاملMatrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino).
Skeletal dysplasias represent in vivo models of genetic defects. Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein, collagen type II, is a rare and severe skeletal dysplasia. It comprises a severe derangement of the fetal growth plate cartilage with subsequent ossification defects. In this study, we analyzed the matrix composition and cel...
متن کاملAntenatal diagnosis of achondrogenesis type II.
Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of n...
متن کاملHagfish and lancelet fibrillar collagens reveal that type II collagen-based cartilage evolved in stem vertebrates.
The origin of vertebrates was defined by evolution of a skeleton; however, little is known about the developmental mechanisms responsible for this landmark evolutionary innovation. In jawed vertebrates, cartilage matrix consists predominantly of type II collagen (Col2alpha1), whereas that of jawless fishes has long been thought to be noncollagenous. We recently showed that Col2alpha1 is present...
متن کاملA Newly Identified Site of Cross-linking between Collagens Ix and Ii: Insights on Molecular Assembly in Cartilage
Introduction The collagenous framework of articular cartilage matures from a covalently cross-linked heteropolymer of types II, IX and XI collagens. Type IX collagen is a quantitatively minor component of the adult tissue but it has an important role in the assembly and function of the matrix. In cartilage, type IX collagen molecules are bound to the surface of type II collagen fibrils and to e...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-00858