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Pierre Robin Syndrome

Pierre Robin syndrome is a condition featuring distinctive facial anomalies. It is also said to be a sequential disorder or a ‘sequence ’because of the associated abnormalities of the body, where 1 defect leads to another. The real reason for this disorder is not known till date; still it is held that some chromosomal hereditary errors can be the cause of this syndrome.

The genetic condition is also called as ‘Pierre Robin sequence’ or ‘Pierre Robin Malformation’ which can be detected easily after the child is born. Its occurrence is about 1 in every eight thousand five hundred to thirty thousand births.

When a medical expert detects and confirms the disorder, parents should take the advice of a geneticist to know whether any other defects are present along with Pierre Robin syndrome. If any such flaws are found then the extra abnormalities have to be corrected through medical methods.

Symptoms of Pierre Robin syndrome

Some of the facial abnormalities and other signs of Pierre Robin syndrome include:

  • Severe and persistent ear infections
  • The jaw may be draws back deep into the throat
  • Lower jaw is very small with a narrowing chin
  • Blockage of the upper airways may be observed
  • Severe curving of the palate
  • Posterior dislodgment of the tongue, where the tongue can be bigger in size when compared to the size of the jaw.
  • The child may have natal teeth or may have no teeth at all at the time of birth.

Pierre Robin syndrome may cause many complications, including:

  • Babies with Pierre Robin syndrome may suffer from feeding and respiration difficulties.
    • The affected child may require feeding assistance. Feeding problems may prevent them from consuming enough calories necessary for growth and development. Therefore, on occasions, doctors may suggest the use of a nasogastric tube for feeding purposes.
    • The child may often lie flat on its stomach to facilitate the forward movement of the tongue, thereby freeing or opening up the airways.Respiratory problems can also result in undue exertion for the affected babies, which in turn can cause excess use of energy and vital calories. Physicians may suggest the use of a nasopharyngeal tube to free up blocked airways in extreme cases.
    • A majority of infants with Pierre Robin syndrome tend to suffer from Stickler syndrome. Hence, parents need to consult an eye doctor to check for any underlying eye anomalies.

Causes

The real reason for the disorder is not known till date. It is assumed that at the time of formation of fetal bone, the end of the jaw gets tangled at the sternum, where the collar bones join together. This stops the full formation of the jaw bones.

It is also suggested that a baby usually suffers from this syndrome as a sign of several other underlying disorders. Some syndromes linked with Pierre Robin syndrome are Fetal Alcohol syndrome, Treacher Collins syndrome, and Velocardiofacial syndrome. However, Stickler syndrome is the most common disorder linked with Pierre Robin syndrome.

Treatment of Pierre Robin syndrome

There are no sure-shot, standard, or precise treatment methods for correcting the anomalies associated with Pierre Robin syndrome. Treatments are centered on handling all the signs of the disorders and averting complications. Some methods to treat the signs and symptoms linked with the disorder include:

  • Problems associated with respiration and feeding are the main concern with an infant suffering from Pierre Robin syndrome. A number of measures can help in dealing with the feeding and breathing issues. It will also help in providing necessary nutrients to the infant with Pierre Robin syndrome, thereby allowing for the smooth progress of its constant development and growth.
  • A correction technique known as distraction osteogenesis can be opted for correcting the tiny size of the lower jaw. In this technique one or both the jaws are broadened and the tongue is thrust forward. This will help in clearing the airways, which in turn will make breathing easy.
  • A baby with Pierre Robin syndrome may also experience gastro-esophageal reflux. This will worsen the signs and symptoms and cause more respiratory issues. However, gastro-esophageal reflux effects can be reduced with aid of medicines. Small meals in intervals can be given to babies to stop frequent vomiting. The baby can also be placed in a wedge, in a straight position, to prevent vomiting.
  • Surgeries can be opted to correct the  palate. No single treatment can be used to treat the abnormalities. Each case is detected and treatments are selected as per the symptoms and defects of the baby suffering from this disorder.

Most cases can be treated effectively and nearly all the children with this disorder develop into mature adults with good health. Still it is observed that the affected children may not attain their complete development and growth. This is because of hypoxia, which is a result of obstructed airways.

 Pierre Robin Syndrome Pictures

 

 

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