A congenital dysmorphy syndrome of characteristic facies, hypertelorism, hypospadias and dysphagia and oesophageal defect with swallowing difficulty.
A congenital dysmorphy syndrome of characteristic facies, hypertelorism, hypospadias and dysphagia and oesophageal defect with swallowing difficulty. Pulmonary aspiration can occur frequently and be fatal. Apparently due to an autosomal dominant gene with very variable expressivity. Males are more severely affected than females. The designation G syndrome stems from the surname of the first reported family. Some authors suggest that this and the hypertelorism-hypospadias syndrome (BBB syndrome) represent the same entity, hence the designation BBBG syndrome.
- J. M. Opitz, J. L. Frias, J. E. Gutenberger, J. R. Pellett:
The G syndrome of multiple congenital anomalies.
Birth Defects Original Article Series, New York, V, 1969, 2: 95-101.
- A. Verloes, et al:
BBBG syndrome or Opitz syndrome: New Family.
American Journal of Medical Genetics, New York, 1989, 34: 313-316.
What is an eponym?
An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus
any word related to medicine, whose name is derived from a person.
What is Whonamedit?
Whonamedit.com is a biographical dictionary of medical eponyms.
It is our ambition to present a complete survey of all medical phenomena named for a person,
with a biography of that person.
Whonamedit? 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.