resources-articles, abstracts & links

Resources

Article & Abstract Links

By Dr. John Opitz

Abstract: FG Syndrome, an X-linked multiple congenital anomalyfor diagnostic testing Syndrome: The clinical phenotype and an algorithm
Genetics in Medicine November, 2009, Clark, Graham, et al

Abstract: Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
Journal of Medical Genetics 2009, Lyons, Graham, et al

Abstract: Behavior of 10 patients With FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene
American Journal of Medical Genetics 2008, Graham, Visootsak, et al

Abstract: A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Nature Genetics April 2007, Risheg, Graham, et al

FG Syndrome: Prenatal Diagnosis
Poss, Alexis

Abstract: “Midline Defects in FG Syndrome: Does Tethered Spinal Cord Contribute to the Phenotype” from the Journal of Pediatrics, Wayne, Visootsak, et al

September 12, 2006 FGS Update letter
Dr. John Opitz

OMIM “Opitz-Kaveggia Syndrome; OKS (FGS1)”

Piluso, D’Amico, et al
Medical Information Resources

Whonamedit, Dr. John M. Opitz
Biographical information on Dr. John M. Opitz, “the Father” of FG Syndrome

Greenwood Genetics Center XLMR update page
Provides updates and information about X-lined MR conditions)

National Organization of Rare Disorders (NORD)
Provides information about rare disorders, including FG Syndrome

Orphanet Database
Searchable resource for a variety of medical conditions

Other Resources

The Opitz family Network
Provides information for individuals with Opitz G/BBB & FG Syndrome

National Organization for Disorders of the Corpus Callosum
Provides information for individuals with brain anomalies involving the corpus callosum

Special Olympics
National website, includes regional program locator

The ARC of the United States
Provides support and services for adults and children with intellectual disabilities

Accessible Playgrounds
Links to lists of Universally Accessible Playgrounds in the U.S. and Canada

Our Kids
A website devoted to raising children with special needs.

Exceptional Parent
Provides many family resources

Article & Abstract Links
Medical Information Resources
Other Resources

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