Pierre Robin Syndrome
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Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome. Until 1974, the triad was known as Pierre Robin syndrome; however, the term syndrome is now reserved for those errors of morphogenesis with the simultaneous presence of multiple anomalies caused by a single etiology. The term sequence has been introduced to include any condition that includes a series of anomalies caused by a cascade of events initiated by a single malformation.
Breugem and Courtemanche, in a 2009 article, illustrated the confusion regarding the classification of Robin sequence. [1] They surveyed (via questionnaires) numerous aspects, among them, the difference between “retrognathia” and “micrognathia” and whether the cleft type (ie, “U-shaped” versus “V-shaped”) had any influence in the decision-making process. A Pubmed literature review of the 50 most recent articles about Robin sequence was also included. The results were confusing. The questionnaires revealed 14 different definitions, and the Pubmed review of 50 publications gave 15 different opinions regarding Robin sequence.
An image depicting Pierre Robin syndrome can be seen below.
This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1, except in the X-linked form.
Autosomal recessive inheritance is possible. An X-linked variant has been reported involving cardiac malformations and clubfeet.
Three pathophysiological theories exist to explain the occurrence of Pierre Robin sequence.
The mechanical theory: This theory is the most accepted. The initial event, mandibular hypoplasia, occurs between the 7th and 11th week of gestation. This keeps the tongue high in the oral cavity, causing a cleft in the palate by preventing the closure of the palatal shelves. This theory explains the classic inverted U-shaped cleft and the absence of an associated cleft lip. Oligohydramnios could play a role in the etiology since the lack of amniotic fluid could cause deformation of the chin and subsequent impaction of the tongue between the palatal shelves.
The neurological maturation theory: A delay in neurological maturation has been noted on electromyography of the tongue musculature, the pharyngeal pillars, and the palate, as has a delay in hypoglossal nerve conduction. The spontaneous correction of the majority of cases with age supports this theory.
The rhombencephalic dysneurulation theory: In this theory, the motor and regulatory organization of the rhombencephalus is related to a major problem of ontogenesis.
Micrognathia is reported in the majority of cases (91.7%). It is characterized by retraction of the inferior dental arch 10-12 mm behind the superior arch. The mandible has a small body, obtuse genial angle, and a posteriorly located condyle. The growth of the mandible catches up during the first year; however, mandibular hypoplasia resolves and the child attains a normal profile by approximately age 5-6 years. The jaw index is defined as the alveolar overjet multiplied by the maxillary arch divided by the mandibular arch. This index can be used to objectify mandibular growth. The alveolar overjet is the distance between the most anterior points of the upper and lower alveolar arches. The maxillary arch is the measurement between the 2 tragi via the subnasal point, and the mandibular arch is the distance from the right to the left tragus passing through the pogonion.
Glossoptosis is noted in 70-85% of reported cases. Macroglossia and ankyloglossia are relatively rare findings, noted in 10-15% of reported cases.
The combination of micrognathia and glossoptosis may cause severe respiratory and feeding difficulty in the newborn. Godbout et al (2013) published a study comparing anatomical cleft parameters between isolated cleft palate patients and Pierre Robin syndrome patients. [2] They concluded that cleft palate Pierre Robin syndrome patients present statistically significant different cleft characteristics. They demonstrated a significant correlation between the width of the cleft of the soft palate and the severity of the respiratory symptoms and feeding difficulties in Pierre Robin syndrome patients. Obstructive sleep apnea may also occur. In reported series, the prevalence of cleft palate varies from 14-91%. It can affect the soft and hard palates and is usually U shaped (80%) or V shaped. Occasionally, it may present as a bifid or double uvula or as an occult submucous cleft.
The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients. Temporal bone computerized planigraphs demonstrate inadequate pneumatization of the mastoid cavities in many patients with Pierre Robin sequence.
Gruen et al (2005) studied 13 temporal bones by light microscopy and identified multiple architectural anomalies involving the entire ear, including abnormal auricles, and anomalies of the ossicles, including abnormal stapes footplates. [3] All specimens showed signs of middle ear infection. Anomalies of the inner ear included aplasia of the lateral semicircular canals, a large vestibular aqueduct, and unusually large otoconia. In the mastoid process there were islands of cartilage in the expected position of Reichert’s cartilage and dehiscence of the fallopian canal. Loss of cochlear hair cells was seen in children who had antemortem hypoxia.
Nasal deformities are infrequent and consist mostly of anomalies of the nasal root. Dental and philtral malformations occur in one third of cases. Laryngomalacia occurs in approximately 10-15% of patients with Pierre Robin sequence. Gastroesophageal reflux and esophagitis has also been described.
Speech defects occur frequently in patients with Pierre Robin sequence. Velopharyngeal insufficiency is usually more pronounced in these patients than in those with isolated cleft palate.
In general, systemic anomalies are documented in 10-85% of reported cases. Ocular anomalies are reported in 10-30% of patients. The higher frequency is usually observed when an ophthalmologist is consulted. The following lesions occur in decreasing order of frequency: hypermetropia, myopia, astigmatism, corneal sclerosis, and nasolacrimal duct stenosis.
Cardiovascular findings such as benign murmurs, pulmonary stenosis, patent ductus arteriosus, patent foramen ovale, atrial septal defect, and pulmonary hypertension have all been documented. Their prevalence varies in the literature from 5-58%.
Anomalies involving the musculoskeletal system are the most frequent systemic anomalies (noted in 70-80% of cases). They include syndactyly, dysplastic phalanges, polydactyly, clinodactyly, hyperextensible joints, and oligodactyly in the upper limbs. In the lower extremities, foot anomalies (clubfeet, metatarsus adductus), femoral malformations (coxa varus or valgus, short femur), hip anomalies (flexure contractures, congenital dislocation), anomalies of the knee (genu valgus, synchondrosis), and tibial abnormalities have been reported. Vertebral column deformities include scoliosis, kyphosis, lordosis, vertebral dysplasia, sacral agenesis, and coccygeal sinus.
Central nervous system (CNS) defects such as language delay, epilepsy, neurodevelopmental delay, hypotonia, and hydrocephalus may occur. The incidence of CNS defects is around 50%.
Genitourinary defects may include undescended testes (25%), hydronephrosis (15%), and hydrocele (10%).
Associated syndromes and conditions include Stickler syndrome, trisomy 11q syndrome, trisomy 18 syndrome, velocardiofacial (Shprintzen) syndrome, deletion 4q syndrome, rheumatoid arthropathy, hypochondroplasia, Möbius syndrome, and CHARGE association.
Evans et al (2006) from the Massachusetts Eye and Ear Infirmary reviewed 115 patients with PRS. [4] They found that 54% (N=63) of patients were nonsyndromic. Syndromic patients included: Stickler syndrome (18%), velocardiofacial syndrome (7%), Treacher-Collins (5%), facial and hemifacial microsomia (3%), and other defined (3.5%) and undefined (9%) disorders.
A retrospective study by Costa et al of 181 infants indicated that isolated Pierre Robin syndrome does not increase mortality risk, with the risk being increased in patients with cardiac or central nervous system anomalies or with anomalies of two or more organ systems. [5]
In the majority of patients, conservative management with close observation and follow up is successful. The natural history shows that with normal growth, airway compromise resolves without immediate surgical intervention. Isolated Pierre Robin syndrome (PRS) patients usually respond more favorably to the conservative approach.
Recently, Abel et al (2012) reported on long-term outcomes in 104 children with PRS and airway obstruction. In most children (86.5%), airway obstruction was managed by conservative measures or with a nasopharyngeal airway (NPA) for a few months. [6]
Prone positional therapy has proved to be highly efficient in airway management. Oral airway placement, laryngeal mask, nasopharyngeal stenting, and short-term intubation (< 2 wk) are other options in case positioning is inadequate. Intubation is often difficult owing to the micrognathia and should be performed by someone specialized in problematic pediatric airway management.
Feeding difficulties can be alleviated by upright feeding techniques, modification of the nipple for bottle feeding, temporary use of nasogastric or orogastric feeding tube, and the placement of a gastrostomy. Palatal plates such as the pre-epiglottic baton plate, which have a velar extension, pull the base of the tongue forward. This can be helpful in the relief of airway obstruction, and it also facilitates the swallowing mechanism during feeds.
A retrospective study by Rathé et al of 48 patients with Pierre Robin sequence found that the need for resuscitation and invasive treatment were higher in those with Pierre Robin syndrome or nonsyndromic associated anomalies than in patients with isolated Pierre Robin sequence. [7]
Infants with pronounced micrognathia may experience severe respiratory distress or failure to thrive. Treatment is prioritized according to the severity of airway compromise followed by the extent of feeding difficulties. [8] Lidsky et al (2008) reviewed 67 Pierre Robin syndrome (PRS) patients from their multidisciplinary cleft team at a tertiary pediatric hospital. [9] They found that delaying airway intervention may necessitate feeding assistance via a g-tube. Surgical intervention is necessary in these cases.
Although many different surgical procedures have been described, tracheostomy remains the most widely used technique. Other surgical procedures, such as subperiosteal release of the floor of the mouth (see the image below), and different types of glossopexy, such as the Routledge procedure or other forms of tongue-lip adhesions, can be used. Any glossopexy should be released before significant dentition develops (age 9-12 mo). Mandibular lengthening by gradual distraction may be used for severe mandibular hypoplasia that causes obstructive apnea. Published articles by Hong and others on the use of mandibular distraction osteogenesis in PRS patients have described significant improvements in both airway obstructive symptoms and feeding abnormalities. Patients showed clinical and objective improvements in reflux and swallowing function after surgery. [10, 11, 12]
Paes et al (2013) compared the outcome and cost-effectiveness of tracheotomy versus mandibular distraction. [13] They demonstrated that tracheostomy was 3 times more expensive and indirect costs were almost 5 times higher. They also reported 4 times more complications with tracheostomy.
A study by Khansa et al indicated that airway obstruction and feeding difficulties in Pierre Robin sequence can be effectively addressed through adoption of a comprehensive treatment approach that incorporates conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion, with requirement for postprocedure tracheostomy minimized via careful selection of which patients should undergo surgery and which procedure is best employed in the specific patient. [14]
As the therapy of choice to correct the conductive hearing loss and prevent middle ear complications, tympanostomy tubes are usually inserted when the palatoplasty is performed.
Surgical procedures to repair the cleft palate, details of which are not included herein, fall into 1 of 2 categories. The first category comprises all the one-stage procedures, and the second includes all multistage approaches in which the velum is initially closed and hard palate repair is delayed. The most common procedure is the single-stage palate (hard and soft) closure, performed when the child is aged 6-18 months.
Bütow et al (2009) analyzed data from 188 patients with Robin Sequence defined by the clinical triad of glossoptosis, retrognathia/micrognathia, and cleft or agenesis of the palate. [15] They analyzed different aspects such as incidence, risk factors, associated syndromes, airway and feeding difficulties, and outcome management. They also evaluated a protocol of different surgical and nonsurgical management options.
Breugem C, Courtemanche D. Robin Sequence: Clearing Nosologic Confusion. Cleft Palate Craniofac J. 2009 Oct 8. 1. [Medline].
Godbout A, Leclerc JE, Arteau-Gauthier I, Leclerc LD. Isolated Versus Pierre Robin Sequence Cleft Palates: Are They Different?. Cleft Palate Craniofac J. 2013 Jun 26. [Medline].
Gruen PM, Carranza A, Karmody CS, et al. Anomalies of the ear in the Pierre Robin triad. Ann Otol Rhinol Laryngol. 2005 Aug. 114(8):605-13. [Medline].
Evans AK, Rahbar R, Rogers GF, et al. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 2006 Jun. 70(6):973-80. [Medline].
Costa MA, Tu MM, Murage KP, Tholpady SS, Engle WA, Flores RL. Robin sequence: mortality, causes of death, and clinical outcomes. Plast Reconstr Surg. 2014 Oct. 134 (4):738-45. [Medline].
Abel F, Bajaj Y, Wyatt M, Wallis C. The successful use of the nasopharyngeal airway in Pierre Robin sequence: an 11-year experience. Arch Dis Child. 2012 Feb 13. [Medline].
Rathe M, Rayyan M, Schoenaers J, Dormaar JT, Breuls M, Verdonck A, et al. Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre. Int J Pediatr Otorhinolaryngol. 2015 Aug. 79 (8):1206-12. [Medline].
Kam K, McKay M, MacLean J, Witmans M, Spier S, Mitchell I. Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence. Can Respir J. 2015 May-Jun. 22 (3):171-5. [Medline].
Lidsky ME, Lander TA, Sidman JD. Resolving feeding difficulties with early airway intervention in Pierre Robin Sequence. Laryngoscope. 2008 Jan. 118(1):120-3. [Medline].
Hong P, Brake MK, Cavanagh JP, Bezuhly M, Magit AE. Feeding and mandibular distraction osteogenesis in children with Pierre Robin sequence: A case series of functional outcomes. Int J Pediatr Otorhinolaryngol. 2012 Mar. 76(3):414-8. [Medline].
Hong P. A clinical narrative review of mandibular distraction osteogenesis in neonates with Pierre Robin sequence. Int J Pediatr Otorhinolaryngol. 2011 Aug. 75(8):985-91. [Medline].
Ren XC, Gao ZW, Li YF, Liu Y, Ye B, Zhu SS. The effects of clinical factors on airway outcomes of mandibular distraction osteogenesis in children with Pierre Robin sequence. Int J Oral Maxillofac Surg. 2017 Jul. 46 (7):805-10. [Medline].
Paes EC, Fouché JJ, Muradin MS, Speleman L, Kon M, Breugem CC. Tracheostomy versus mandibular distraction osteogenesis in infants with Robin sequence: a comparative cost analysis. Br J Oral Maxillofac Surg. 2013 Dec 30. [Medline].
Khansa I, Hall C, Madhoun LL, et al. Airway and Feeding Outcomes of Mandibular Distraction, Tongue-Lip Adhesion, and Conservative Management in Pierre Robin Sequence: A Prospective Study. Plast Reconstr Surg. 2017 Apr. 139 (4):975e-83e. [Medline].
Butow KW, Hoogendijk CF, Zwahlen RA. Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol. J Pediatr Surg. 2009 Nov. 44(11):2112-8. [Medline].
Ted L Tewfik, MD Professor of Otolaryngology-Head and Neck Surgery, Professor of Pediatric Surgery, McGill University Faculty of Medicine; Senior Staff, Montreal Children’s Hospital, Montreal General Hospital, and Royal Victoria Hospital
Ted L Tewfik, MD is a member of the following medical societies: American Society of Pediatric Otolaryngology, Canadian Society of Otolaryngology-Head & Neck Surgery
Disclosure: Nothing to disclose.
Yolene Lacroix, MD, FRCSC Otolaryngologist, Montreal Children’s Hospital
Yolene Lacroix, MD, FRCSC is a member of the following medical societies: American Cleft Palate-Craniofacial Association, Canadian Society of Otolaryngology-Head & Neck Surgery
Disclosure: Nothing to disclose.
Nathalie Trinh, MD, CM Consulting Staff, Department of Otolaryngology, Jean Talon Hospital, Canada
Nathalie Trinh, MD, CM is a member of the following medical societies: Canadian Medical Association, Canadian Society of Otolaryngology-Head & Neck Surgery, Quebec Medical Association, Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.
Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Received salary from Medscape for employment. for: Medscape.
David W Stepnick, MD Associate Professor, Departments of Otolaryngology-Head & Neck Surgery and Plastic Surgery, Case Western Reserve University School of Medicine, MetroHealth Medical Center
David W Stepnick, MD is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, American Medical Association, Society of University Otolaryngologists-Head and Neck Surgeons, American College of Surgeons
Disclosure: Nothing to disclose.
Arlen D Meyers, MD, MBA Professor of Otolaryngology, Dentistry, and Engineering, University of Colorado School of Medicine
Arlen D Meyers, MD, MBA is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, American Head and Neck Society
Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cerescan;RxRevu;Cliexa;Preacute Population Health Management;The Physicians Edge<br/>Received income in an amount equal to or greater than $250 from: The Physicians Edge, Cliexa<br/> Received stock from RxRevu; Received ownership interest from Cerescan for consulting; for: Rxblockchain;Bridge Health.
Ari J Goldsmith, MD Chief of Pediatric Otolaryngology, Long Island College Hospital; Associate Professor, Department of Otolaryngology, Division of Pediatric Otolaryngology, State University of New York Downstate Medical Center
Ari J Goldsmith, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Association, and Medical Society of the State of New York
Disclosure: Nothing to disclose.
Pierre Robin Syndrome
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