Pierre-Robin syndrome

Pierre-Robin Syndrome Pierre-Robin Syndrome, also known as Pierre Robin Sequence or Pierre Robin Complex, is a congenital condition characterized by a combination of craniofacial anomalies. It is named after the French stomatologist Pierre Robin, who first described the condition in 1923.

Clinical Features

The primary features of Pierre-Robin Syndrome include:

• Micrognathia: A condition where the jaw is undersized, leading to a smaller than normal chin.
• Glossoptosis: Downward displacement or retraction of the tongue, which can cause airway obstruction.
• Cleft Palate: An opening in the roof of the mouth due to incomplete fusion of the palatal shelves during fetal development.

These features can lead to difficulties with breathing, feeding, and speech development.

Etiology

The exact cause of Pierre-Robin Syndrome is not fully understood. It is believed to result from a sequence of developmental disruptions during fetal growth. In some cases, it may be associated with genetic syndromes such as Stickler Syndrome or 22q11.2 deletion syndrome.

Diagnosis

Diagnosis is typically made based on clinical examination and the presence of the characteristic features. Imaging studies such as X-rays or MRIs may be used to assess the severity of the jaw and airway abnormalities.

Management

Management of Pierre-Robin Syndrome involves addressing the specific symptoms and complications:

• Airway Management: Ensuring a clear airway is critical. This may involve positioning techniques, use of a nasopharyngeal airway, or surgical interventions such as tongue-lip adhesion or mandibular distraction osteogenesis.
• Feeding Support: Special feeding techniques or devices may be necessary to ensure adequate nutrition.
• Surgical Repair: Cleft palate repair is typically performed between 9 and 18 months of age.

Prognosis

The prognosis for individuals with Pierre-Robin Syndrome varies depending on the severity of the condition and the presence of associated syndromes. With appropriate management, many individuals can lead healthy lives.

See Also

• Craniofacial Anomalies
• Congenital Disorders
• Genetic Syndromes

Robin, Pierre,

 La chute de la base de la langue consid r e comme une nouvelle cause de g ne dans la respiration naso-pharyngienne, 
 Bulletin de l'Association Fran aise pour l' tude du Palatin, 
 1923, 
 Vol. 29 
 pp. 37 41,

Kenneth L.,

 Smith's Recognizable Patterns of Human Malformation, 
 7th edition, 
 Elsevier, 
 2013, 
  
  
 ISBN 978-1-4377-1986-6,

NIH genetic and rare disease info

• NIH info on Pierre-Robin syndrome

Pierre-Robin syndrome is a rare disease.