Pierre Robin syndrome is a syndrome of craniofacial congenital abnormalities, which results from an abnormal development of the mandible in the embryo's embryonic period. Both genetic and environmental factors can influence the development of Pierre Robin syndrome.

Contents:

  1. Pierre Robin syndrome - symptoms
  2. Pierre Robin syndrome - light and heavy character
  3. Pierre Robin syndrome - diagnosis
  4. Pierre Robin syndrome - treatment

Pierre Robin syndrome is influenced by both genetic and environmental factors. It is a syndrome of craniofacial congenital abnormalities, which results from an abnormal development of the mandible in the embryo's embryonic period.

Pierre Robin syndrome - symptoms

The triad of symptoms characteristic of Pierre Robin syndrome is:

  • małożuchwie, or micrognation,
  • tongue moved backwards,
  • cleft palate.

There are also less specific symptoms, such as retrognathia, or a receding chin. This symptom, on its own, is not necessarily pathological if it does not adversely affect the basic activities of the newborn, including food intake. There is a possibility of underdevelopment of the outer ear in Pierre Robin syndrome, which can lead to hearing impairment and cause frequent infections.

Pierre Robin syndrome - light and heavy character

Depending on the severity of symptoms, the severity of the disease and the child's he alth are assessed. There are light and heavy forms. They can be distinguished by the level of severity of the cleft palate. If it concerns only the soft palate, we distinguish the light form of Pierre Robin syndrome. When the disease also affects the hard palate and the lip, it is considered a severe form.

Children's problems with Pierre Robin syndrome:

  • breathing problems may appear in the first months of life,
  • there is a probability of airway obstruction due to the collapse of the tongue,
  • aspiration pneumonia may occur, which carries the risk of aspiration of food into the respiratory tract.

Genetic syndromes in which the Pierre Robin sequence may be present, affecting the characteristicappearance:

  • Georg's syndrome - visible facial dysmorphia, underdevelopment of the palate, immunodeficiency,
  • Stickler syndrome - vision problems, flat face, palate defects,
  • Treacher Collins syndrome - underdevelopment and deformation of the ears, underdevelopment of the cheekbones, folding, stretching of the lower eyelids.

Pierre Robin syndrome - diagnosis

Pierre Robin Sequences are not recognized by special tests. Ultrasound examination in the womb does not always allow for diagnosis of the disease, because the changes in the craniofacial region vary in intensity.

The diagnosis is made after a physical examination of the newborn, although it is very difficult, even for experienced doctors.

Pierre Robin syndrome - treatment

Pierre Robin syndrome is incurable. Treatments are symptomatic. It is important to keep the airway open after the baby is born. Actions that can be taken to ensure proper breathing conditions:

  • put your baby on your stomach
  • place the tongue towards the back of the throat
  • feeding should be carried out via a gastric tube
  • use CPAP to support breathing. The CPAP device is an air pump connected to a special face mask covering both the nose and mouth or located only on the nose. This method is used to treat sleep apnea and respiratory failure. It consists in maintaining a continuous positive pressure in the airways
  • carry out glossopexy, i.e. a surgical procedure that allows the tongue to be positioned in such a way as to prevent it from collapsing
  • put on a laryngeal mask airway device to ensure proper ventilation in the event of dyspnea
  • perform a tracheotomy
About the authorNatalia MłyńskaStudent of medicine at the Medical University of Lodz. Medicine is her greatest passion. He also loves sports, mainly running and dancing. She would like to treat her future patients in such a way as to see them as a human being, not only a disease.

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Category:

Genetic diseases