Pierre Robin Syndrome

What is Pierre Robin Syndrome?

This is condition present at birth, wherein infants are born with micrograthia or unusually small lower jaw, resulting to the tongue that is drawn back into the throat and breathing difficulties. Studies show that the prevalence rate for this condition is 1 in every 8,500 live births, and the male to female ratio is 1:1. In addition, it is possible that Pierre Robin Syndrome can be transmitted through autosomal recessive inheritance. Pierre Robin syndrome is also known in various names such as the following:


  • Pierre Robin Malformation Sequence
  • Robin Anomalad
  • Cleft Palate, Micrognathia, and Glossoptosis

Symptoms

The following are the symptoms of Pierre Robin Syndrome

Micrograthia

  • Smaller than normal jaw size
  • This is seen in 91 percent of patients

Characteristics:

  • Inferior dental arch is retracted behind the superior arch
  • The mandible has smaller body, obtuse genial angle, and condyles are posteriorly located

Glossoptosis

Retraction of the tongue occurs in 70-85 percent of case

  • Cleft soft palate
  • High-arched palate
  • Larger tongue compared to the jaw
  • Natal teeth – teeth already appears by the time the baby is born
  • Otitis media – ear infection
  • Small opening in the roof of the mouth, which might cause choking

The occurrence of both small jaw size and the retraction of the tongue will usually cause severe respiratory and feeding difficulty in the newborn

Other Systemic manifestations include the following:

  • Ocular anomalies
  • Cardiovascular findings such as patent ductus arteriosus, pulmonary stenosis, benign murmurs, etc.
  • Involvement of the musculoskeletal system are as follows:

Upper Limb:

  • Dysplastic phalanges
  • Polydactyly
  • Clinodactyly
  • Hypersensitive joints
  • Oligodactyly

Lower extremities

  • Foot anomalies
  • Femoral malformations
  • Hip anomalies
  • Knee deformities
  • Tibial abnormalities

Vertebral column:

  • Scoliosis
  • Excessive kyphosis or lordosis
  • Vertebral dysplasia
  • Coccygeal sinus

Causes

Generally, it is believed that the cause of this condition is unknown, however, there have been various theories formulated to explain its origin.

Mechanical Theory

  • This most accepted theory explains that the cleft palate, the first event that happens in patients with Pierre Robin syndrome, occurs between the seventh and eleventh week of gestation. During these months, the tongue is high in the oral cavity, forming a cleft in the palate to prevent the closure of the palatal shelves.
  • Through this theory, it thus explains the inverted U-shaped cleft and the absence of the associated cleft lip. The development of cleft palate is also associated with the condition in pregnancy called oligohydramnios, wherein there is deficiency of the amniotic fluid causing some shin deformation

Neurological Maturation Theory

  • This theory supports the idea that there has been a delay neurological maturation as noted in the electromyography testing on the muscles of the tongue, pharyngeal pillars, and the palate as well as a lag in the conduction of the hypoglossal nerve, which is one of the nerves that innervate the tongue.

Rhombencephalic Dysneurulation Theory

The disorganization of the motor regulation of the hindbrain or the rhombencephalus causes major problems of ontogenesis

Diagnosis

The best way to diagnose a newborn with Pierre Robin Syndrome is through physical examination. A health care provider can already identify signs and symptoms of this condition during any physical exam. However, it is very much recommended to consult a genetics specialist to rule out other problems that are associated with this syndrome.

The physician is expected to perform thorough examination of the patient and may need exams tests to establish the final diagnosis

Treatment

For the treatment of this syndrome, the following should be observed:

  • Do not put the infants on their back because this predisposes them to choking because their tongue will fall backward and obstructs the airway.
  • In some cases, the patient may need a tube placed through the nose and into the airways to avoid airway obstruction.
  • Surgery is needed in severe cases to prevent a blockage in the upper airway. A tracheotomy or a hole in the anterior neck might be needed to facilitate breathing and feeding.

Prognosis

Based on various evidence-based studies, infants affected with this syndrome grow into normal development and size; however, it has been found out globally that the child is often below average size although a bit slightly. This is brought about by chronic deficiency in the distribution of oxygen throughout the body secondary to difficulty in breathing and feeding brought about by the syndrome.

But studies have shown that as long as breathing and feeding difficulties are overcome while in infancy, the prognosis is quite good, and there is a very high possibility that the child will lead to a healthy and normal adult life.

Since the cause of this condition is unknown, there are also no known ways on how to prevent the occurrence of Pierre Robin syndrome. However, based on the theories formulated in an attempt to explain the cause of this condition, perhaps it is imperative for the pregnant mother to take extra caution with her health during the delicate stages of pregnancy. One theories presented is that the cause of this defect is related to the deficiency of amniotic fluid in the womb during pregnancy. Proper and sufficient prenatal care should be able to address this problem because doctors will surely be able to take action on how to manage this. In fact, Cochrane Review concluded that simple maternal rehydration seems to increase the amniotic fluid and may be a great benefit in the management of oligohydramnios. In addition, severe cases of oligohydramnios can be managed through amniofusion during labor to prevent cord compression, which if not addressed promptly, may lead to more serious complications.

Pierre Robin Syndrome Pictures

Pierre Robin Syndrome Pictures

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Pierre Robin Syndrome Photos

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Pierre Robin Syndrome Images

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Pierre Robin Syndrome Pics

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