|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Opitz' BBB syndrome
Also known as:
Christian-Opitz syndrome
Opitz’ syndrome
Opitz-Christian Syndrome
Associated persons:
Joe. C. Christian
John Marius Opitz
Description:
A dysmorphy syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. Associated defects may include cleft lip and palate, urinary malformations, cryptorchidism, cardiovascular disorders and mental retardation. Etiology unknown. Mode of inheritance is uncertain. It may be due to an autosomal or X-chromosomal dominant gene with variable expressivity. Some authors suggest that this and the hypospadias-dysphagia syndrome (G syndrome) represent the same entity, hence the designation BBBG syndrome.
Opitz, Smith, and Summitt in 1965 described the first three families. The term BBB syndrome comes from the initials of these three families.
Bibliography:
- J. M. Opitz, D. W. Smith, Robert L. Summitt (American human geneticist):
Hypertelorism and hypospadias (Abstract). Journal of Pediatrics, St. Louis, 1965, 67: 969.
- J. M. Opitz, R. L. Summit, D. W. Smith:
The BBB syndrome. Familial telecanthus with associated congenital anomalies.
Birth Defects Original Article Series, New York, V, 1969, (2): 86-94.
- J. C. Christian, D. Bixler, S. Blythe, et al:
Familial telecanthus with associated congenital anomalies.
Birth Defects Original Article Series, New York, V, 1969, (2): 82-85.
- A. Verloes, et al:
BBBG syndrome or Opitz syndrome: New Family.
American Journal of Medical Genetics, New York, 1989, 34: 313-316.
|
|
|
