The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Raymond J Newman - One of the best experts on this subject based on the ideXlab platform.
-
shoulder joint replacement for osteoarthrosis in association with thalidomide induced Phocomelia
Clinical Rehabilitation, 1999Co-Authors: Raymond J NewmanAbstract:The natural history of thalidomide-induced Phocomelia has not yet been established since only 35 years have elapsed since the problems associated with this drug became evident.This paper presents what is considered to be the first case of osteoarthrosis in such an individual treated by shoulder joint replacement.Joint arthoplasty is almost certainly going to become an integral part of the life-long rehabilitation process in such affected individuals.
David D Schwartz - One of the best experts on this subject based on the ideXlab platform.
-
neurocognitive profile of a young adolescent with dk Phocomelia von voss Phocomelia von voss cherstvoy syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Tanya N Antonini, Valerie Van Horn Kerne, Marni E Axelrad, Lefkothea Karaviti, David D SchwartzAbstract:DK Phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK Phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK Phocomelia syndrome.
Evangelos Perdikakis - One of the best experts on this subject based on the ideXlab platform.
-
thalidomide induced Phocomelia an old wound that still hurts
Open Medicine, 2012Co-Authors: Evangelos PerdikakisAbstract:A case of a female patient with thalidomide-induced Phocomelia and additional dermal complications associated with the prosthesis itself is presented herein.
G Karbani - One of the best experts on this subject based on the ideXlab platform.
-
mutations in wnt7a cause a range of limb malformations including fuhrmann syndrome and al awadi raas rothschild schinzel Phocomelia syndrome
American Journal of Human Genetics, 2006Co-Authors: C G Woods, Sigmar Stricker, Petra Seemann, Rowena Stern, James J Cox, E Sherridan, Emma Roberts, Kelly Springell, Sheila Scott, G KarbaniAbstract:Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.
Tanya N Antonini - One of the best experts on this subject based on the ideXlab platform.
-
neurocognitive profile of a young adolescent with dk Phocomelia von voss Phocomelia von voss cherstvoy syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Tanya N Antonini, Valerie Van Horn Kerne, Marni E Axelrad, Lefkothea Karaviti, David D SchwartzAbstract:DK Phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK Phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK Phocomelia syndrome.