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Opitz-Kaveggia syndrome
Also known as:
Keller’s syndrome
Associated persons:
Elisabeth G. Kaveggia
Margaret Anne Keller
John Marius Opitz
Description:
Distinct disease picture with mental retardation, joint contractures, muscular hypotony, imperforate or displaced anus, macrocephaly, and characteristic facial dysmorphy, seizures, occasionally sensineuronal deafness. Short stature. Striking personalities. In males. X-linked inheritance.
Opitz and Kaveggia defined the disease picture in 1974 and termed it FG syndrome for the initials of the first published family. X-linked recessively inherited condition.
FG syndrome is now the term commonly used for this condition.
Bibliography:
- J. M. Opitz, E.G. Kaveggia:
The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation.
Zeitschrift für Kinderheilkunde, 1974, 117: 1-18.
- Margaret Anne Keller, Kenneth L. Jones, William L. Nyhan, Uta Francke, Barbara Dixson:
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities.
The Journal of Pediatrics, St. Louis, April 1976, 88 (4 part 1): 589-591.
- H. Keller, G. Neuhauser, Mary Virginia Durkin-Stamm, E. G. Kaveggia, A. Schaaff, F.Sitzman-Adam:
ADAM Complex (amniotic deformity, adhesions, mutilations) – A pattern of craniofacial and limb defects.
The American Journal of Medical Genetics, New York, 1978, 2: 81-98.
- J. M. Opitz, A. M. Rauch, A. Poss, A. Pfeiffer, D. S. Folland, D. Walker:
The FG Syndrome: perspective in 2001.
La Sindrome FG: prospettive nell’anno 2001.
The Italian Journal of Pediatrics, Pisa, 2001, 27: 715-729.
- J. M. Graham Jr, J. Visootsak, E. Dykens, L. Huddleston, R. D. Clark, K. L. Jones, J. B. Moeschler, J. M. Opitz, J. Morford, R. Simensen, R. C. Rogers, C. E. Schwartz, M. J. Friez, R. E. Stevenson:
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
American Journal of Medical Genetics. Part A, Hoboken, N.J., December 1, 2008, 146A (23): 3011-3017.
- J. M. Opitz, J. F. Smith, L. Santoro:
The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008.
Advances in Pediatrics, 2008, 55: 123-170.
We thank Andre Trombeta and Sara Gelser for information submitted.
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