- Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes
Bryan D Hall
Division of Clinical Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA
Am J Med Genet A 143:3047-53. 2007
..This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups...
- Elements of morphology: standard terminology for the periorbital region
Bryan D Hall
Department of Pediatrics, University of Kentucky, Lexington, Kentucky 40536 0284, USA
Am J Med Genet A 149:29-39. 2009
..Here we introduce the anatomy of the periorbital area and define and illustrate the terms that describe the major characteristics of the periorbital area...
- X-linked cubitus valgus with mental retardation and typical face
Kenneth Lyons Jones
Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA
Am J Med Genet A 123:33-6. 2003
..Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition...
- 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...
- A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
John M Graham
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
Am J Med Genet A 123:37-44. 2003
..Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome...
- Further delineation of Kabuki syndrome in 48 well-defined new individuals
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...
- DOOR syndrome: clinical report, literature review and discussion of natural history
Aaron W James
School of Medicine, University of California, San Francisco, California
Am J Med Genet A 143:2821-31. 2007
..A comprehensive literature review reveals 32 patients with DOOR syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history...