Cathy A Stevens

Summary

Affiliation: University of Tennessee College of Medicine
Country: USA

Publications

  1. doi request reprint Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 158:1195-9. 2012
  2. doi request reprint Adults with Rubinstein-Taybi syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, USA
    Am J Med Genet A 155:1680-4. 2011
  3. pmc New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 152:1915-8. 2010
  4. doi request reprint Steinfeld syndrome: Further delineation
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 152:1789-92. 2010
  5. doi request reprint Familial odontoid hypoplasia
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 149:1290-2. 2009
  6. doi request reprint The hair collar sign
    Cathy A Stevens
    Department of Pediatrics, T C Thompson Children s Hospital, University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA
    Am J Med Genet A 146:484-7. 2008
  7. ncbi request reprint Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit of the University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA
    Clin Dysmorphol 15:187-8. 2006
  8. ncbi request reprint Significance of bifid epiglottis
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 134:447-9. 2005
  9. ncbi request reprint Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine and T C Thompson Children s Hospital, Chattanooga, Tennessee 37403, USA
    Am J Med Genet A 125:12-6. 2004
  10. ncbi request reprint Ablepharon-macrostomia syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine Chattanooga Unit and T C Thompson Children s Hospital, Chattanooga, Tennessee 37403, USA
    Am J Med Genet 107:30-7. 2002

Detail Information

Publications11

  1. doi request reprint Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 158:1195-9. 2012
    ..However, careful clinical evaluation and molecular testing if necessary should distinguish these two disorders...
  2. doi request reprint Adults with Rubinstein-Taybi syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, USA
    Am J Med Genet A 155:1680-4. 2011
    ..Very few of the study participants were seeing a geneticist as an adult. Long-term involvement of geneticists and education of adult primary care providers may help with many of the challenges facing adults with RTS and their families...
  3. pmc New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 152:1915-8. 2010
    ..These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion...
  4. doi request reprint Steinfeld syndrome: Further delineation
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 152:1789-92. 2010
    ..This appears to be an autosomal dominant syndrome with widely variable expression. The clinical features of this syndrome are reviewed...
  5. doi request reprint Familial odontoid hypoplasia
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 149:1290-2. 2009
    ..This is an important observation in that evaluation of family members is warranted in order to identify those at risk of neurologic compromise...
  6. doi request reprint The hair collar sign
    Cathy A Stevens
    Department of Pediatrics, T C Thompson Children s Hospital, University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA
    Am J Med Genet A 146:484-7. 2008
    ..Careful clinical evaluation and MRI of the brain are indicated prior to biopsy or excision of these scalp lesions...
  7. ncbi request reprint Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit of the University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA
    Clin Dysmorphol 15:187-8. 2006
  8. ncbi request reprint Significance of bifid epiglottis
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA
    Am J Med Genet A 134:447-9. 2005
    ..Many of the anomalies associated with bifid epiglottis have potentially serious consequences and thus, a thorough evaluation of the patient with bifid epiglottis is warranted...
  9. ncbi request reprint Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis
    Cathy A Stevens
    Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine and T C Thompson Children s Hospital, Chattanooga, Tennessee 37403, USA
    Am J Med Genet A 125:12-6. 2004
    ..This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults...
  10. ncbi request reprint Ablepharon-macrostomia syndrome
    Cathy A Stevens
    Department of Pediatrics, University of Tennessee College of Medicine Chattanooga Unit and T C Thompson Children s Hospital, Chattanooga, Tennessee 37403, USA
    Am J Med Genet 107:30-7. 2002
    ..This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features...
  11. ncbi request reprint Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, USA
    Am J Med Genet A 140:2416-25. 2006
    ..Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11...