He Pierre Robin syndrome (SPR), also known as Pierre Robin sequence is a disorder of genetic origin classified within syndromes or craniofacial pathologies (Arancibia, 2006).
At the clinical level, Pierre Robin syndrome is characterized by three fundamental clinical findings: micrognathia, glossoptosis and upper respiratory tract obstruction and variable presence of cleft palate (Sridhar Reddy, 2016).
Regarding the etiological origin of this pathology, Pierre-Roben syndrome is due to the presence of specific mutations in the SOX9 gene, most of which are diagnosed (Genetics Home Reference, 2016).
In general, this syndrome produces important medical complications including respiratory insufficiency, digestive animals or the development of other craniofacial malformations (Association of Anomalies and Dentofacial Malformations, 2016).
On the other hand, the diagnosis of Pierre-Robin syndrome is not usually confirmed until the moment of birth. In addition to the clinical findings, it is essential to perform various radiological tests to identify bone alterations (Pierre Robin Australia, 2016).
There is currently no cure for Pierre Robin syndrome, however, surgical approaches are often used to correct musculoskeletal disorders. In addition, respiratory and gastrointestinal adaptations are important to avoid potentially life-threatening medical complications (Rethé, Rayyan, Shoenaers, Dormaar, Breuls, Verdonck, Devriednt, Vander Poorten and Hens, 2015).
Characteristics of Pierre Robin syndrome
Pierre Robin syndrome is a congenital pathology, whose clinical findings are present from the moment of birth and, in addition, all its characteristics are related to the presence of a craniofacial malformation (Genetics Home Reference, 2016).
In addition, in the medical literature we can identify different terms used in the context of Pierre Robin syndrome: Pierre Robin disease, Pierre Robin malformation or Pierre Robin sequence (The National Craniofacial Association, 2016).
At the specific level, this syndrome was first described in 1891 by Menerad and Lannelongue. Clinical reports described two patients whose clinical course was characterized by underdevelopment of the mandibular bone structure, cleft palate, and lingual displacement or retraction (Arancibia, 2006).
However, it was not until 1923 that Pierre Robin fully described the clinical spectrum of this pathology, focusing on the case of a child affected by mandibular malformation, an abnormally large tongue, and significant respiratory problems (Children's Craniofacial Association, 2016 ).
Although this pathology is fundamentally distinguished by craniofacial radiological findings, there is a high mobility associated with medical complications related mainly to heart failure and feeding problems.
Specifically, Pierre Robin syndrome presents high mortality associated with airway obstruction, neurological abnormalities or cardiac abnormalities (Sridhar Reddy, 2016).
On the other hand, many authors prefer to refer to this pathology only as a Pierre sequence, since it is the mandibular anomalies that have to produce the rest of typical signs and symptoms (Pierre Robin Australia, 2016).
Frequency
The prevalence of Pierre Robin syndrome is estimated to be approximately one case per 8,500 children born alive, of whom more than 80% of diagnosed cases are associated with other medical complications and specific syndromes (Arancibia, 2006).
On the other hand, in the case of the United States, the incidence of Pierre Robin syndrome is 1 case per 3,120 births each year (Lee, Thottam, Ford and Jabbour, 2015).
Neither has a differential prevalence of Pierre Robin syndrome associated with gender, provenance geography, or particular ethnic and racial groups.
In addition, Pierre Robin syndrome is one of the craniofacial pathologies with a high probability of mortality. In the United States, approximately 16.6% of all deaths die from the development of medical complications (Lee, Thottam, Ford and Jabbour, 2015).
By order of occurrence, the most frequent secondary medical pathologies are: cardiac abnormalities (39%), Alterations in the central nervous system (33%) and abnormalities in other organs (24%) (Lee, Thottam, Ford and Jabbour, 2015).
Signs and symptoms
The Pierre Robin sequence is distinguished from other types of chromosomal pathologies by the presence of three fundamental clinical features: Micrognathia , Glosoptosis and cleft palate (Children's Craniofacial Association, 2016; Genetics Home reference, 2016; Rehté et al., 2015):
Micrognatia
With the term micrognathia we refer to the presence of a pathological alteration of the development of the mandibular structure, specifically, the final form presents a reduced size compared to that expected for the level of development of the affected person.
As a consequence, the incomplete development of this craniofacial structure will cause a wide variety of alterations, all related to the presence of malformations that affect the mouth and face.
Micrognathia is a medical sign present in approximately 91% of people affected by Pierre Robin syndrome.
Glosoptosis
With the term glossoptosis we refer to the presence of an abnormal retraction of the position of the tongue within the buccal structure, specifically, the languages have to be located behind the normal product of micrography and reduction of the volume of the oral cavity .
Anomalies related to the position and structure of the tongue may cause significant feeding problems that can lead to serious medical conditions.
In addition, in other cases, it is also possible to identify an abnormally large language ( Macroglossia ), Which makes breathing difficult, chewing or producing a functional language, among others.
In addition, glosoptosis is one of the most frequent clinical signs in Pierre Robin syndrome, observed in approximately 70-85% of diagnosed cases. While macroglossia can be observed in a smaller percentage, in about 10-15% of affected individuals.
Cleft palate
This term refers to the presence of a malformation in the palatal areas or buccal roof, that is, the presence of fissures or holes associated with incomplete mandibular development can be observed.
Like the other clinical findings, the cleft palate will cause important alterations in feeding.
In addition to these signs and symptoms, it is also possible to identify other types of alterations, including (Arancibia, 2006; Rehté et al., 2015):
- Nasal malformations.
- Eye disorders.
- Musculoskeletal disorders and malformations, mainly related to the development of oligodactyly (reduction of the number of fingers, less than 5 in hands or feet) Clinodactyly (Transverse deviation of the position of the fingers), Polydactyly (Increase in the number of fingers), Hypermobility in the joints (Abnormally exaggerated increase in joint mobility), Dysplasia In the phalanges (phalanges with poor or incomplete bone development) or Syndactyly (Fusion of several fingers)
- Other alterations: it is also possible to identify malformations in the structure of the extremities or in the spine.
Most Common Medical Complications
In addition to the medical features detailed above, there may be others related to several systems (Arancibia, 2006; Children's Craniofacial Association, 2016; Genetics Home reference, 2016; Rehté et al., 2015):
Heart alterations
Cardiac alterations are one of the medical complications with the greatest impact on the individual's health, presenting important risks for their survival. However, signs and symptoms related to the cardiovascular system are usually treatable through pharmacological and / or surgical approaches.
Some of the most frequent cardiac abnormalities include Cardiac stenosis , he Foramen oval Persistent, alteration of the arterial septum or hypertension .
Neurological disorders
The genetic origin of Pierre Robin syndrome may also involve the development of various neurological disorders, mainly related to the presence of abnormalities in the Central Nervous System (CNS).
Thus, some of the neurological disorders most associated with Pierre Robin syndrome may include Hydrocephalus , the Chiari malformation , the Epileptic episodes , Or delayed acquisition of psychomotor skills.
Respiratory disorders
Respiratory disturbances are one of the most relevant features, since they can cause both the death of the patient due to respiratory failure and the development of brain damage due to the lack of oxygen in nerve areas.
Thus, in many cases surgical corrections are required to release the airways, mainly correction of mandibular dysplasia or position of the tongue.
Anomalies in feeding
As in the case of respiratory disorders, feeding problems derive primarily from mandibular malformations.
Therefore, from birth it is fundamental to identify those anomalies that make feeding difficult, with the aim of correcting them and, therefore, reducing the probability of developing medical pathologies related to malnutrition.
Causes
The syndrome or sequence of Pierre Robin, has a genetic etiological origin, associated to alterations in the gene SOX9. Although this anomaly has been identified in most isolated cases of Pierre Robin syndrome, some of its clinical features may be associated with other genetic mutations (Genetics Home Reference, 2016).
Specifically, the SOX9 gene plays a fundamental role in proportioning the biochemical instructions necessary for the production of a protein involved in the development and formation of different tissues and organs during fetal development (Genetics Home Reference, 2016).
In addition, current research indicates that the SOX9 protein can regulate the activity of other types of genes, especially those involved in the development of the skeletal structure and, therefore, the mandibular (Genetics Home Reference, 2016).
As a result, genetic alterations prevent proper morphological development of certain structures and, therefore, the cardinal clinical findings appear: micognatia, glossoptosis and cleft palate.
Diagnosis
In many cases, craniofacial structural malformations can be identified during gestation through ultrasound ultrasound, although cases are rare.
In this sense, it is more frequent that the suspicion of the Pierre Robin syndrome is carried out in the postnatal or infantile phase. In much of the affected, signs structures are significantly evident so the diagnosis is confirmed through radiological tests along with physical examination.
However, the other case requires a previous respiratory study and then a radiological study to determine the presence of this syndrome.
In addition, another fundamental aspect in the diagnosis of this pathology is the exploration of other areas, especially the cardiac and nervous system, since another type of life-threatening abnormalities can appear.
Finally, the diagnostic intervention may include an individual and family genetic study to identify possible genetic associations.
Treatment
The typical Pierre Robin syndrome treatment is based on surgical procedures to correct craniofacial malformations (Arancibia, 2006):
- Tracheotomy .
- Close palatine clefts.
- Jaw lengthening.
- Bone distraction.
- Lingual fixation.
In addition, other pharmacological approaches are also used for the treatment of cardiac pathologies, epileptic episodes and other neurological events.
In addition, the people affected often Language production , So in many cases the early logopedic approach is essential.
The essential objective is to establish an efficient communication method through residual capacities and, in turn, stimulate the acquisition of new skills.
References
- AAMADE. (2016). Pierre Robin syndrome. Obtained from Association of Dentofacial Anomalies and Malformations
- Arancibia, J. (2006). Sequence of Pierre Robin. Pediatric Pneumology, 34-36.
- Association, C.C. (2016). Guide to understand the sequence of Pierre Robin.
- FACES. (2016). Pierre Robin Sequence. Obtained from The National Craniofacial Association
- Lee, J., Thottam, P., Ford, M., & Jabbour, N. (2015). Characteristics of sleep apnea in infants with Pierre-Robin sequence: Is there improvement with advancing age? International Journal of Pediatric Otorhinolaryngology, 2059-2067.
- NIH. (2016). Isolated Pierre Robin sequence. Obtained from Genetics Home Reference
- PRA. (2016). What is Pierre Robin Sequence (PRS)? Obtained from Piere Robien Australia
- Rathé, M., Rayyan, M., Schoenaers, J., Dormaar, J., Breuls, M., Verdonck, A., et al. . . Hens, G. (2015). Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral center. International Journal of Pediatric Otorhinolaryngology, 1206-1212.
- Srifhar Reddy, V. (2016). Evaluation of upper airway obstruction in infants with Pierre Robin sequence and the role of polysomnography - Review of current evidence. Pediatric Respiratory Reviews, 80-87.
- Tolarova, M. (2014). Pierre Robin Sequence. Obtained from Medscape.