Twins with Pierre Robin syndrome.

Area of Science:

• Genetics and Developmental Biology
• Pediatric Medicine
• Pathology

Background:

• Familial occurrence of Pierre Robin syndrome is increasingly reported.
• Pierre Robin syndrome is a congenital condition characterized by micrognathia, cleft palate, and glossoptosis.

Purpose of the Study:

• To report postmortem findings in male twins concordant for Pierre Robin syndrome.
• To investigate the potential role of extreme micrognathia in mortality within familial Pierre Robin syndrome cases.

Main Methods:

• Postmortem examination of male twins.
• Roentgencephalometric measurements of craniofacial structures.
• Comparison with clinical history of an affected sibling.

Main Results:

• Both twins exhibited the classic triad of micrognathia, cleft palate, and glossoptosis.
• Additional findings included low-set, malformed ears in both twins.
• Roentgencephalometric analysis indicated extreme micrognathia, suggesting a cause for non-survival.
• An older sibling with similar deformities also died in infancy.

Conclusions:

• The findings support a strong genetic component in Pierre Robin syndrome.
• Extreme micrognathia is a critical factor contributing to the poor prognosis in severe familial cases.
• Further research into the genetic and developmental factors is warranted.