Stephen R Braddock

Summary

Affiliation: University of Virginia
Country: USA

Publications

  1. ncbi The face of Joubert syndrome: a study of dysmorphology and anthropometry
    Stephen R Braddock
    University of Virginia Pediatrics, Charlottesville, California, USA
    Am J Med Genet A 143:3235-42. 2007
  2. ncbi Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome
    Stephen R Braddock
    Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 152:1718-23. 2010
  3. ncbi An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management
    Michael J Lipinski
    Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 149:698-701. 2009
  4. ncbi Perioperative care of the child with the Johanson-Blizzard syndrome
    Christopher R Fichter
    Department of Child Health, The University of Missouri, Columbia, MO 65212, USA
    Paediatr Anaesth 13:72-5. 2003
  5. ncbi A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency
    Stephen R Braddock
    Division of Medical Genetics, Metabolism and Dysmorphology, Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri 65212, USA
    Am J Med Genet A 123:95-9. 2003
  6. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005

Detail Information

Publications6

  1. ncbi The face of Joubert syndrome: a study of dysmorphology and anthropometry
    Stephen R Braddock
    University of Virginia Pediatrics, Charlottesville, California, USA
    Am J Med Genet A 143:3235-42. 2007
    ..Variability and overlap of features in JS and other hindbrain syndromes makes clinical diagnosis difficult and probably reflects genetic heterogeneity within the cohort of patients with the MTS...
  2. ncbi Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome
    Stephen R Braddock
    Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 152:1718-23. 2010
    ..In addition, evidence suggesting that the Petty syndrome and Fontaine-Farriaux syndromes are variable expressions of the same condition is discussed...
  3. ncbi An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management
    Michael J Lipinski
    Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 149:698-701. 2009
    ..This case highlights the need for a multidisciplinary approach involving vascular surgery, internal medicine, genetics, and other health care providers for patients with vascular type EDS...
  4. ncbi Perioperative care of the child with the Johanson-Blizzard syndrome
    Christopher R Fichter
    Department of Child Health, The University of Missouri, Columbia, MO 65212, USA
    Paediatr Anaesth 13:72-5. 2003
    ..A case is presented and the potential anaesthetic implications of this syndrome are discussed...
  5. ncbi A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency
    Stephen R Braddock
    Division of Medical Genetics, Metabolism and Dysmorphology, Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri 65212, USA
    Am J Med Genet A 123:95-9. 2003
    ..These cases suggest that other individuals labeled VATER association with multiple other defects should be reviewed more closely to give accurate prognosis and recurrence risk information to families...
  6. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...