Pierre Robin sequence

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Pierre Robin Sequence (also Pierre Robin Syndrome or Robin Syndrome , since Pierre is the first name) is a congenital malformation in humans. It is named after the person who first described it (1923), the Parisian dentist Pierre Robin (1867–1950).

It is characterized by three symptoms

There are also:

Cause, origin

The disease is caused by an embryonic developmental disorder . The cause ( etiology ) and development ( pathogenesis ) of the disease are not fully understood. An increased familial occurrence and chromosomal changes were observed.

There are external causes, such as teratogenic substances, such as vitamin A overdose, maternal smoking during pregnancy, alcohol abuse , maternal illnesses during pregnancy (bacterial or viral diseases) that contribute to the Pierre Robin sequence.

Purely mechanical factors such as lack of amniotic fluid or unusual head posture of the embryo are also held responsible for the Pierre Robin sequence. There are different views as to the primary cause.

One explanation suggests that the reduced lower jaw forces the tongue backwards and upwards. This is to prevent the fusing of the palatal processes of the left and right maxillary bulges during the embryonic development and to create a cleft palate.

Another explanation sees the primary cause as a disorder of tongue development. The delayed development of the tongue prevents the lower jaw from stretching and causes the microgenius.

Frequency of occurrence

The frequency of occurrence is low and is approximately in one child under 8,000 to 30,000 births, depending on whether higher-level syndromes such as the rare Carey-Fineman-Ziter syndrome are included. Girls are more often affected than boys (= gynecotropia ). The ratio of girls to boys is roughly 3: 2.

Implications and problems

A Pierre Robin sequence can have multiple effects:

  • Impairment of breathing : Due to the backward displacement of the tongue, the upper airways show anatomical deviations and an obstructive sleep apnea syndrome is often present. As a result, attacks of suffocation with life-threatening obstruction of the airway through the tongue can occur shortly after birth. The tongue can also fall back during sleep, block the airways and lead to a lack of oxygen. A supine position should be avoided. An intubation and operational rarely intervention may be necessary: tracheotomy and fixation of the tongue.
  • Nutritional disorders, sucking and swallowing disorders: Diet is often a problem. Breastfeeding is particularly difficult. As the tongue is pushed back, the child often chokes, air is swallowed and frequent belching or vomiting is the result. Swallowing and sucking coordination is sometimes disturbed. In the case of cleft palates, there are also the typical problems of this malformation (no or insufficient suction vacuum, risk of aspiration of food). A lack of weight gain is often the result. A tube feeding may be necessary in some cases. The palate plate and special feeding aids (finger feeding, special teats: Haberman Feeder or Playtex Drop-Ins) usually enable oral nutrition.
  • Speech problems : The cleft palate and the tongue that is shifted back can disturb the balance between the nasal and oral resonance spaces. A hypernasal vocal sound is created.
  • Growth disorders of the midface: Due to the lack of pressure of the tongue on the palate and also due to scarring after the cleft palate has been closed, growth disorders can occur with the upper jaw shifting backwards.
  • Ear diseases: The cleft palate can result in effusions and ear infections and hearing problems.
  • Misaligned teeth
  • Possibly persistent incorrect and / or nasal pronunciation can cause psychosocial problems.

treatment

With regard to the cleft palate, see the detailed description in Cleft lip and palate . In addition, it makes sense:

  • Birth in a maximum care hospital if the facial malformation is known prenatally .
  • Consistent keeping of the airways clear from birth: in milder cases by lying on the stomach (tongue falls forward due to gravity), otherwise with the help of the so-called Tübingen palate plate or by surgical procedures (lower jaw wire extension, bone distraction)
  • Consistent monitoring of vital functions in the first few weeks of life , especially at night, in order to immediately recognize breathing pauses, home monitoring if necessary.
  • Ensure that the infant gains sufficient weight. Breastfeeding is rarely possible due to the anatomy, so it makes sense to breast milk by breast pump to pump.
  • Middle ear ventilation monitoring
  • Functional orthodontic treatment to correct the lower jaw (e.g. activator)
  • Human genetic and ophthalmological examination to diagnose or rule out Stickler's syndrome (useful at around 1 year of age)
  • Speech therapy ( speech therapy ), language development promotion according to Padovan (neurofunctional reorganization)

association

The Pierre Robin Sequence can occur in conjunction with other malformations:

literature

  • RJ Shprintzen: The implications of the diagnosis of Robin sequence . In: Cleft Palate Craniofacial Journal. 1992 May; 29 (3), pp. 205-209, PMID 1591252
  • S. Zschiesche: Orthodontic Treatment Options for Infants with Pierre Robin Syndrome . In: Advances in Orthodontics. 41, 1980, pp. 474-480.
  • Andrew R. Scott, Robert J. Tibesar, James D. Sidman: Pierre Robin Sequence: evaluation, management, indications for surgery, and pitfalls . In: Otolaryngologic Clinics of North America . Vol. 45, No. 3 , 2012, p. 695-710 , doi : 10.1016 / j.otc.2012.03.007 , PMID 22588044 (English).

Web links

Individual evidence

  1. ^ W. Pschyrembel: Clinical dictionary. 265th edition. Verlag Walter de Gruyter, 2014, ISBN 978-3-11-018534-8 .
  2. ↑ whonamedit.com whonamedit
  3. ^ S. Goudy, C. Ingraham, J. Canady: The occurrence of velopharyngeal insufficiency in Pierre Robin Sequence patients . In: Int J Pediatr Otorhinolaryngol . 2011. doi : 10.1016 / j.ijporl.2011.06.024 . PMID 21782256 .
  4. ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Volume 2: Symptoms. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .