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Opitz-Frias syndrome

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A congenital dysmorphy syndrome of characteristic facies, hypertelorism, hypospadias and dysphagia and oesophageal defect with swallowing difficulty.

Description

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.

Bibliography

  • 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.

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