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Opitz-Kaveggai syndrome
Also known as:
Keller’s syndrome
Associated persons:
Elisabeth G. Kaveggia
H. 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.
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.
- 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.
We thank Andre Trombeta for information submitted.
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