OVERVIEW: What every practitioner needs to know Are you sure your patient has Pierre Robin Sequence? What are the typical findings for this disease? Pierre Robin sequence (PRS; also known as Robin sequence, Robin complex, Pierre Robin syndrome, Pierre Robin triad, or Robin anomalad) is a constellation of congenital abnormalities that includes glossoptosis, micrognathia, and…
OVERVIEW: What every practitioner needs to know Treacher-Collins syndrome (TCS, also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome) is an autosomal dominant condition that typically results from a spontaneous mutation in the gene TCOF1, which encodes a nucleolar phosphoprotein named Treacle. TCS results in symmetric craniofacial defects, the severity of which varies considerably from person…
