Achondrogenesis Type II, Abnormalities of Extracellular Matrix
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 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 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...
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Polycystic kidneys diseases (PKD) are a group of monogenic kidney disorders that lead to cyst development in the kidneys. Polycystic kidney diseases are a common indication for renal transplantation and dialysis and a leading cause of end-stage renal disease (ESRD). There are two types of PKD, the autosomal dominant type called ADPKD with an estimated prevalence rate of 1:400-1:1000 worldwide (...
متن کاملAchondrogenesis type I. A familial subvariant?
The clinical, pathological, and radiological features of 2 male sibs with a severe and lethal form of micromelic dwarfism are desribed. The family also includes 2 normal sibs. The histological and radiological appearances suggested a diagnosis of achondrogenesis type I, but the markedly deficient ossification of the skull and the presence of intrauterine rib fractures were atypical. These chang...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198709000-00017