Search results for "Ehlers-Danlos Syndrome"
showing 2 items of 2 documents
Early intestinal perforation secondary to congenital mesenteric defects
2016
Abstract Gastrointestinal perforation (GIP) in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC), or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome), twinning, and use of assisted reproductive technologies. These cases prompted us to rev…
Ehlers-Danlos syndrome type VII: phenotype and genotype
1994
A patient suffering from a severe form of Ehlers-Danlos syndrome is presented (EDS type VII). The presence of bilateral congenital hip dislocation, generalized joint hypermobility and a soft hyperelastic skin with abnormal scarring suggested a specific collagen type I defect. SDS-PAGE analysis of collagens secreted into the medium of fibroblast cultures showed a retarded migration of more than half of the alpha 2(I) chains. CNBr peptide mapping of the HPLC-purified altered chain localized the mutant locus to the N-terminal region of the protein. cDNA analysis of the corresponding gene COL1A2 revealed, in addition to the expected collagen sequence, a transcript missing the entire exon 6. Thi…