|Year : 2017 | Volume
| Issue : 2 | Page : 139-143
Siblings with pierre robin sequence
Medhini Madi, Subhas G Babu, Sonika Achalli, Supriya Bhat, Kumuda Rao, Ananya Madiyal
Department of Oral Medicine and Radiology, A. B. Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, Karnataka, India
|Date of Web Publication||14-Mar-2017|
Department of Oral Medicine and Radiology, A. B. Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka
Source of Support: None, Conflict of Interest: None
Pierre Robin anomalad is a syndrome characterized by cleft of the palate, micrognathia of the mandible, and glossoptosis. This syndrome can occur as an individual presentation, or it may be associated with a wide variety of syndromes and anomalies. Such patients are burdened with several problems, some obvious and some less so. The most obvious problems such as the psychological difficulties the patients will have to face due to the appearance and associated problems such as feeding and speech difficulties and serious consequences such as airway obstruction. Here, we report two cases of Pierre Robin sequence seen in the same family in two children of the same parents.
Keywords: Anomalies, cleft palate, syndrome
|How to cite this article:|
Madi M, Babu SG, Achalli S, Bhat S, Rao K, Madiyal A. Siblings with pierre robin sequence. CHRISMED J Health Res 2017;4:139-43
|How to cite this URL:|
Madi M, Babu SG, Achalli S, Bhat S, Rao K, Madiyal A. Siblings with pierre robin sequence. CHRISMED J Health Res [serial online] 2017 [cited 2017 Nov 22];4:139-43. Available from: http://www.cjhr.org/text.asp?2017/4/2/139/201998
| Introduction|| |
“Pierre Robin” is one of the most widely acknowledged diagnostic eponyms in the field of medicine. It is one of the most readily recognized words, yet it is a very poorly understood nonspecific grouping of anomalies. All the specializations in medical science that deals with children having anomalies are familiar with a French stomatologist who described the multiple findings in infants with micrognathia after whom the syndrome is named.
A patient having a “syndrome” is the one who has multiple anomalies where all of those anomalies have a single pathogenesis. The word “sequence” is different from the word syndrome. In a sequence, the patient has multiple anomalies and all or some of the anomalies are caused secondarily by one of the anomalies present in that patient. In case of Robin sequence, micrognathia is the primary anomaly. Cleft palate and obstruction of the upper airway are possible consequences of anomalies in the mandible, and the mandibular abnormality may have several different etiology.
Here, we report two rare cases of Pierre Robin sequence in children of the same parents who do not manifest cleft of the palate and discuss the diagnostic criteria, the approach to treating the problems, and the prognosis.
| Case Report|| |
A 3-year-old male child (Case 1) and a 6-year-old female child (Case 2) were brought by the parents to the outpatient department of oral medicine and radiology with a chief complaint of defect in the mouth since birth. History, as told by the parents, revealed that the two children had defects in the mouth since birth, and both the children had difficulty in breathing during sleep. Medical history when elicited revealed that both the kids were born to nonconsanguineously married couple, at term, with normal birth weight, uneventful antenatal and postnatal period. Both the children had associated breathing difficulties. Family history was noncontributory. Extraoral examination of the Case 1 revealed convex facial profile, low set ears, external ear deformity on both the ears, micrognathic and retrognathic mandible [Figure 1]. Extraoral features of the Case 2 revealed the same facial features, except that the left external ear was normal while the right ear showed deformity [Figure 2]. Interestingly, both the cases showed no cleft palate while both of them gave a history of airway obstruction; hence, there was glossoptosis. Both cases showed restricted mouth opening and decreased thyromental distance. Intraoral examination revealed primary dentition phase in Case 1 with rampant caries and abscess with relation to 84 [Figure 3]. Case 2 showed mixed dentition phase having dental caries with relation to 52, 62, 74, 75, 84, 85 [Figure 4]. A provisional diagnosis of Pierre Robin sequence was arrived at, and differential diagnosis of Stickler syndrome and velocardiofacial syndrome was considered.
Radiographic examination: Panoramic radiograph of Case 1 revealed dental caries with relation to all teeth and presence of permanent teeth buds [Figure 5]. Lateral cephalogram revealed retrognathic and micrognathic mandible and increased gonial angle [Figure 6]. Panoramic radiograph of Case 2 revealed dental caries with relation to 52, 62, 74, 75, 84, 85 and presence of permanent teeth buds [Figure 7]. Lateral cephalogram revealed retrognathic and micrognathic mandible with increased gonial angle [Figure 8].
Both the patients have been assessed for possible association with different syndromes by multidisciplinary approach. Specialists were consulted and a working diagnosis of Pierre Robin syndrome was arrived at. Plastic surgeon and craniofacial surgeon surgeons were consulted, and the patients have been posted for distraction osteogenesis. Postsurgical activation of external distractor will be done bilaterally. Pediatrician, otorhinolaryngologist, and speech pathologist were also consulted.
| Discussion|| |
The birth prevalence estimates of Robin sequence is variable ranging from 1 in 2000 to 1 in 30000 live births. Definitions of Robin sequence are variable. Definition is usually based on the triad of micrognathia, cleft palate, and glossoptosis. Nevertheless, others have been advocated. One definition permits the presence of submucous cleft palate. Another consists of micrognathia ± cleft palate ± glossoptosis as evident in our case. Such a view allows cleft palate or isolated micrognathia to qualify as Robin sequence. The binary combination of cleft palate and micrognathia could also qualify for the same diagnosis.
The facies is typical and very striking at the time of birth of the infant. The mandible is very small and symmetrically receded. The base of the nose may be flattened. U-shaped palatal cleft or even V-shaped palatal cleft may be present. Difficulty in the inspiratory phase of respiration is apparent, with periodic cyanotic attacks, labored breathing, and recession of the sternum and ribs. This becomes especially apparent when the child is in the supine position. Respiratory difficulty is usually evident at birth although it may not be severe for the 1st week. Although there is no complete agreement concerning the exact mechanism by which respiratory difficulties are produced, the classic explanation suggests that the micrognathia is the primary culprit and this gives very little support for the tongue musculature. This allows the tongue to fall downward and backward (glossoptosis) into the lower postpharyngeal space, obstructing the epiglottis. In this position, the tongue permits egress of air but prevents inhalation, acting much as a ball valve, causing period cyanosis and sternal retraction.
The two most common syndromes associated with Pierre Robin sequence are Stickler syndrome and velocardiofacial syndrome. In Stickler syndrome, mandible has a typical morphology characterized by short ramus of the mandible and antegonial notching of the body of the mandible. Patients with Stickler syndrome has normal intelligence but may have severe ocular abnormalities such as myopia, retinal detachment, and vitreoretinal degeneration. In velocardiofacial syndrome, the mandible is retrognathic with a more normal appearing body of the mandible and without shortening of the ramus of the mandible. These patients usually have cognitive impairment and may have heart malformations with a possibility of late-onset psychosis.
A multidisciplinary approach is ideally suited for this task, consisting of specialists from plastic and reconstructive surgery, pediatric otolaryngology, pediatric pulmonology, speech pathology, nursing, pediatric anesthesia, and neonatology. Nonsurgical management of such patients include prone or lateral positioning to solve the airway obstruction, and during infancy, if the child shows continued breathing difficulties, then nasopharyngeal tube is indicated.
Addressing feeding difficulties is the second most important aspect of the treatment. Early feeding through nasogastric tube and sodium supplementation in babies with low urinary sodium is the mainstay of management. Temporizing measures such as supplemental oxygen, nasopharyngeal tubes, laryngeal masks, and prolonged intubation are inadequate in infants with severe respiratory distress. The most common methods for surgical management of airway obstruction include tongue–lip adhesion, distraction osteogenesis, and tracheostomy. Distraction osteogenesis of the mandible, first described in 1989 by McCarthy, has become popular as the decisive technique to address the issues associated with Robin anomalad by relieving obstruction of the airway, improving facial cosmetics, and malocclusion correction. The procedure of mandibular distraction stretches the jaw forward. As the mandible is projected forward, the tongue is also pulled anteriorly through its muscular attachments. This technique reverses the sequence of Pierre Robin by fixing the issue of micrognathia which in turn improves the glossoptosis.
Robin sequence is an infrequent, heterogeneous, and only partly understood entity. Various management strategies are used to treat respiratory and feeding problems as well as dental and craniofacial problems. There are various treatments available such as positioning, nasopharyngeal airway, tongue–lip adhesion, mandibular distraction, and tracheotomy. The choice between treatment schedules depends on the severity of the problems, but decision-making is often based on the treating specialist's preference. At present, it remains uncertain which treatment is best.
In spite of well-defined clinical presentation in the literature, the pathogenesis is also very poorly understood, especially its heterogeneity. Genetic counseling of the parents may be of utmost importance because we can closely monitor the subsequent pregnancies for possible precipitation of this syndrome.
| Conclusion|| |
Clinicians must be aware of the fact that Pierre Robin sequence can be associated with a large number of syndromes. Pierre Robin sequence may be just the starting point of the identification of a syndrome and its effective management. This is a syndrome that can be associated with medical emergencies, and hence, early recognition and prompt treatment are the way forward.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J 1992;29:205-9.
Cohen MM Jr. The Robin anomalad – Its nonspecificity and associated syndromes. J Oral Surg 1976;34:587-93.
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. 3rd
ed. McGraw-Hill Inc., Oxford University Press; 1990. p. 860-2.
Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 1992;42:141-2.
Marcellus L. The infant with Pierre Robin sequence: Review and implications for nursing practice. J Pediatr Nurs 2001;16:23-34.
Gangopadhyay N, Mendonca DA, Woo AS. Pierre robin sequence. Semin Plast Surg 2012;26:76-82.
Basart H, Van Oers HA, Paes EC, Breugem CC, Don Griot PW, Van Der Horst CM, et al
. Health-related quality of life in children with Robin sequence. Am J Med Genet 2016;Pt A 9999 A:1-8.
Oliveira C, Domingues MA. Pierre Robin Sequence: Case report, the relevance of autopsy. J Bras Patol Med Lab 2015;51:335-8.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]