Multiplex targeted highâthroughput sequencing in a series of 352 patients with congenital limb malformations
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23912
Abstract: Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular diagnosis. In the… read more here.
Keywords: limb malformations; congenital limb; sequencing series; throughput sequencing ... See more keywords
The Role of MRI in Children With Congenital Limb Deficiencies With Associated Scoliosis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000001484
Abstract: Background: The association of scoliosis and congenital limb deficiency has been well described. However, the incidence of neural axis abnormalities in this population is not known. The ability to assess the neural axis by physical… read more here.
Keywords: children congenital; scoliosis; deficiency; limb deficiency ... See more keywords
Congenital limb deficiency requiring transfemoral amputation
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-223980
Abstract: A healthy female infant was born from a twin pregnancy with an isolated congenital lower extremity malformation. Aside from prenatally diagnosed polyhydramnios, the infant had normal prenatal and postnatal diagnostic workup. She underwent transfemoral amputation… read more here.
Keywords: deficiency requiring; limb; limb deficiency; congenital limb ... See more keywords
Perinatal outcomes of infants with congenital limb malformations: an observational study from a tertiary referral center in Central Europe
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pregnancy and Childbirth"
DOI: 10.1186/s12884-020-2720-x
Abstract: Background Congenital limb malformations are rare, and their perinatal outcomes are not well described. This study analyzed the perinatal outcomes of infants with congenital limb malformations. Methods All infants with congenital limb malformations who underwent… read more here.
Keywords: delivery; limb malformations; perinatal outcomes; congenital limb ... See more keywords