Stephen R Braddock
Affiliation: University of Virginia
- The face of Joubert syndrome: a study of dysmorphology and anthropometryStephen 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...
- Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndromeStephen 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...
- An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary managementMichael 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...
- Perioperative care of the child with the Johanson-Blizzard syndromeChristopher 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...
- A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiencyStephen 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...
- Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea 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...