DAVID ANDREW STEVENSON

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Skeletal abnormalities in lysosomal storage diseases
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    Pediatr Endocrinol Rev 10:406-16. 2013
  2. doi request reprint Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 33:269-75. 2013
  3. doi request reprint Peripheral muscle weakness in RASopathies
    David A Stevenson
    University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
    Muscle Nerve 46:394-9. 2012
  4. pmc Mosaicism in Stickler syndrome
    David A Stevenson
    Dept of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Eur J Med Genet 55:418-22. 2012
  5. pmc 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
    Kristy Damjanovich
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Orphanet J Rare Dis 6:85. 2011
  6. doi request reprint Analysis of skeletal dysplasias in the Utah population
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 158:1046-54. 2012
  7. pmc Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    J Clin Endocrinol Metab 93:3443-8. 2008
  8. pmc Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, SLC, UT 84132, USA
    Bone 44:585-9. 2009
  9. pmc Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1
    David A Stevenson
    Shriners Hospitals for Children, Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 29:385-92. 2009
  10. doi request reprint Familial predisposition to developmental dysplasia of the hip
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 29:463-6. 2009

Research Grants

  1. Osseous Abnormalities in Neurofibromatosis Type 1
    David Stevenson; Fiscal Year: 2007

Detail Information

Publications36

  1. ncbi request reprint Skeletal abnormalities in lysosomal storage diseases
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    Pediatr Endocrinol Rev 10:406-16. 2013
    ..As the pathophysiology of the skeletal abnormalities associated with LSDs becomes better elucidated, investigators will likely develop improved therapies to specifically target bone and alleviate the skeletal problems...
  2. doi request reprint Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 33:269-75. 2013
    ..On the basis of current knowledge, we propose a number of concepts to consider as a theoretical approach to the optimal management of tibial pseudarthrosis...
  3. doi request reprint Peripheral muscle weakness in RASopathies
    David A Stevenson
    University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
    Muscle Nerve 46:394-9. 2012
    ..Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies...
  4. pmc Mosaicism in Stickler syndrome
    David A Stevenson
    Dept of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Eur J Med Genet 55:418-22. 2012
    ..This scenario encourages consideration of molecular testing in seemingly unaffected parents for recurrence risks and potential screening for mild age-related manifestations...
  5. pmc 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
    Kristy Damjanovich
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Orphanet J Rare Dis 6:85. 2011
    ..Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG...
  6. doi request reprint Analysis of skeletal dysplasias in the Utah population
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 158:1046-54. 2012
    ..Understanding the range for survival within each group/diagnosis is beneficial for health care providers when counseling families...
  7. pmc Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    J Clin Endocrinol Metab 93:3443-8. 2008
    ..Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality...
  8. pmc Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, SLC, UT 84132, USA
    Bone 44:585-9. 2009
    ..The objective of the study is to determine if the geometry of the lower limb in individuals with neurofibromatosis type 1 (NF1) differs from controls, and to characterize the osseous components of the tibia in NF1...
  9. pmc Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1
    David A Stevenson
    Shriners Hospitals for Children, Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 29:385-92. 2009
    ..Anterolateral leg bowing is associated with neurofibromatosis type 1 (NF1) frequently leading to fracture and nonunion of the tibia. The objective of the study was to characterize the radiographic findings of tibial dysplasia in NF1...
  10. doi request reprint Familial predisposition to developmental dysplasia of the hip
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 29:463-6. 2009
    ..The purpose of this study is to assess the degree of relationship between individuals with DDH...
  11. pmc Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
    Am J Med Genet C Semin Med Genet 151:255-60. 2009
    ..While traditional clinical outcomes are important, these newly developed instruments should be considered along with clinical indicators as measures of effect in clinical trials of interventions in genetic disorders...
  12. pmc Bone resorption in syndromes of the Ras/MAPK pathway
    D A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    Clin Genet 80:566-73. 2011
    ..0001) in all three conditions compared to controls suggesting that collagen degradation was predominantly from bone. The data suggest that the Ras/MAPK signal transduction pathway is important in bone homeostasis...
  13. doi request reprint The musculoskeletal phenotype of the RASopathies
    David A Stevenson
    Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Am J Med Genet C Semin Med Genet 157:90-103. 2011
    ..However, there are also discordant skeletal phenotypes such as sphenoid wing dysplasia and tibial pseudarthrosis seen only in NF1. We provide an overview of the concordant and discordant musculoskeletal manifestations in the RASopathies...
  14. pmc Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Endocrinol Metab 24:169-74. 2011
    ..We report 25OHD concentrations in 109 children with NF1 and 218 controls matched for age, sex, geographic location, and time of year...
  15. pmc Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Pediatr Res 63:697-701. 2008
    ..The effects of NF1 haploinsufficiency likely contribute to abnormal bone remodeling, either directly or indirectly by aberrant Ras signaling, potentially predisposing NF1 individuals to localized skeletal defects...
  16. ncbi request reprint Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals
    David A Stevenson
    Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA
    Am J Med Genet A 124:158-64. 2004
    ..Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended...
  17. ncbi request reprint 6q subtelomeric deletion: is there a recognizable syndrome?
    David A Stevenson
    Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
    Clin Dysmorphol 13:103-6. 2004
    ..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families...
  18. pmc Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:368-72. 2006
    ....
  19. pmc Deaths due to choking in Prader-Willi syndrome
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:484-7. 2007
    ....
  20. pmc A new distal arthrogryposis syndrome characterized by plantar flexion contractures
    D A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2797-801. 2006
    ..All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10)...
  21. pmc Bone mineral density in children and adolescents with neurofibromatosis type 1
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    J Pediatr 150:83-8. 2007
    ..To assess whether children and adolescents with neurofibromatosis type 1 (NF1) have decreased bone mineral density (BMD)...
  22. pmc Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:1053-9. 2007
    ..Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient...
  23. ncbi request reprint Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 130:88-91. 2004
    ..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14...
  24. pmc Gastric rupture and necrosis in Prader-Willi syndrome
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Gastroenterol Nutr 45:272-4. 2007
    ..The physician should consider an emergent evaluation for gastric rupture and necrosis in individuals with PWS who present with vomiting and abdominal pain...
  25. ncbi request reprint Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography
    D A Stevenson
    Department of Paediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Musculoskelet Neuronal Interact 5:145-9. 2005
    ..001], and decreased Stress Strain Index [p=0.010]. These data indicate that NF1 individuals have decreased muscle cross-sectional area and decreased bone strength than individuals without NF1...
  26. pmc Double inactivation of NF1 in tibial pseudarthrosis
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA
    Am J Hum Genet 79:143-8. 2006
    ..These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1...
  27. doi request reprint Speech-language characteristics of children with neurofibromatosis type 1
    Heather L Thompson
    Department of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT 84112 0252, USA
    Am J Med Genet A 152:284-90. 2010
    ..Results of this study support the need for early assessment of speech and language problems for children diagnosed with NF1 and implementation of appropriate timely intervention as needed...
  28. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
    ..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye...
  29. ncbi request reprint Contribution of malformations and genetic disorders to mortality in a children's hospital
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 126:393-7. 2004
    ..This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management...
  30. ncbi request reprint Clinical characteristics and natural history of Freeman-Sheldon syndrome
    David A Stevenson
    Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Pediatrics 117:754-62. 2006
    ..The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS...
  31. pmc The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Genet Med 9:409-12. 2007
    ..Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1...
  32. ncbi request reprint 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    J Pediatr 145:840-2. 2004
    ..Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray...
  33. pmc NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1
    Talia M Muram-Zborovski
    Department of Pathology, University of Utah, SLC, Utah, USA
    Am J Med Genet A 152:1973-8. 2010
    ....
  34. doi request reprint Familial clustering of hemangiomas
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA
    Arch Otolaryngol Head Neck Surg 137:757-60. 2011
    ..To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas...
  35. pmc Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors
    Fallon R Levine
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    J Genet Couns 19:269-79. 2010
    ..Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing)...
  36. pmc A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:2221-6. 2007
    ..We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance...

Research Grants2

  1. Osseous Abnormalities in Neurofibromatosis Type 1
    David Stevenson; Fiscal Year: 2007
    ..abstract_text> ..