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Objective: Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate., Materials and Methods: This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016., Results: A total of 440 studies were retrieved of which the majority used the eponyms "Pierre Robin sequence" (62.0%) or "Robin sequence" (23.4%). During the study period, there was a significant shift toward the use of "sequence" in preference over "syndrome." Only 71.4% of studies mentioned their criteria for diagnosis, which remained heterogeneous throughout the study period., Conclusion: Since 2009, the debate has not produced a consensus eponym and standard diagnosis. This is unfortunate given the enduring controversies over the optimal management of a condition associated with a high morbidity and mortality. A renewed effort is needed to arrive at a workable consensus to enhance the retrievability of relevant literature and facilitate the interpretation of outcome studies.

Objectives: To evaluate the association of polysomnographic parameters with clinical symptom severity in Robin sequence (RS) patients., Methods: All patients diagnosed as presenting with RS at Hospital de Clínicas de Porto Alegre from October 2012 to June 2016 were enrolled. They were classified as isolated RS, RS-plus, and syndromic RS. Polysomnography (PSG) was performed, except for those patients in need of respiratory support. Symptom severity was evaluated as defined by the Cole et al., Classification: Ordinal OR (for the chance of increase in one grade on the clinical severity scale) and R 2 (determination coefficient from ordinal logistic regression) were computed from data analysis., Results: A total of 80 participants were enrolled in the study. Fifty-five of these were able to undergo polysomnography. Worsening of the studied PSG parameters was associated with increase in clinical severity grading, as follows: desaturation index (OR 1.27; 95% CI; 1.07-1.51; R 2  = 19.8%; p = 0.006); apnea/hypopnea Index (OR 1.13; 95% CI; 1.01-1.26; R 2  = 12.5%; p = 0.02); sleep mean oxygen saturation (OR 0.16; 95% CI; 0.05-0.52; R 2  = 22.6%; p = 0.002); oxygen saturation nadir (OR 0.73; 95% CI; 0.56-0.96; R 2  = 10.0%; p = 0.02); percentage of time with oxygen saturation <90% (OR 9.49; 95% CI; 1.63-55.31, R 2  = 37.6%; p = 0.012); and percentage of time presenting with obstruction (OR 2.5; 95% CI; 1.31-4.76; R 2  = 25.1%; p = 0.006)., Conclusions: Polysomnography parameters were associated with severity of clinical manifestations in patients with RS. Oxyhemoglobin saturation-based parameters had surprisingly significant R 2 values. Therefore, those parameters, which have traditionally been undervalued in other clinical settings, should also be assessed in the polysomnographic evaluation of RS patients., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc., (© 2017 Wiley Periodicals, Inc.)

Objective: To evaluate the performance of two glossoptosis airway obstruction classifications in predicting symptom severity and laryngeal exposure difficulty in Robin Sequence (RS) patients., Setting: Public tertiary hospital otolaryngology section (Hospital de Clínicas de Porto Alegre - HCPA)., Patients: All RS patients diagnosed at HCPA from October 2012 to February 2015 were enrolled, a total of 58 individuals. They were classified in isolated RS, RS-Plus and syndromic RS., Intervention: Patients were submitted to sleep endoscopy and a score was attributed according to Yellon and de Sousa by a blinded researcher. Symptom severity evaluation was performed as defined by Cole classification., Main Outcome Measure: Association between endoscopic findings and clinical symptoms severity and laryngeal exposure difficulty., Results: Twenty four patients were identified as isolated RS (41.4%), 19 patients presented as RS-Plus (32.7%) and 15 patients had well defined diagnosed syndromes (25.9%). Concomitant airway anomalies were found in 18 patients (31%). Specifically 17.4% in isolated RS, 55.6% in RS- Plus and 28.6% in the syndromic group had such anomalies (P = 0,03). Probability of presenting severe clinical symptoms as graded by Cole was higher in grade 3 Yellon classification (68.4%, P = 0.012) and in moderate and severe de Sousa classification (61.5% and 62.5%, respectively, P = 0.015) than in milder grades of obstruction. This findings were considered significant even after controlling for patient age. Laryngeal exposure difficulty was correlated with de Sousa and Yellon (Rho = 0,41 and Rho = 0,43, respectively; P < 0,05)., Conclusion: Patients with higher degrees of obstruction in sleep endoscopy had a higher probability of presenting a more severe clinical manifestation and a more difficult laryngeal exposure. Since the number of patients included in this study was small for subgroup analyses, it is not clear if this association is restricted to a specific group of RS., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Neonates with Pierre Robin Sequence (PRS) usually present with varying degrees of upper airway obstruction and difficulty feeding. Early treatment is important for such children in order to prevent impaired cognitive development resulting from hypoxemic episodes. Various procedures aimed at widening the pharyngeal space have been proposed, including prone position, tongue-lip adhesion, mandibular traction, non-invasive ventilation and palatal plates. Mandibular distraction osteogenesis (MDO) using external or internal devices has become increasingly popular as an alternative treatment option when other medical or surgical techniques do not prove to be satisfactory. This review summarizes current evidence on the effectiveness of MDO in infants with PRS. Because of a lack of studies comparing this treatment with other procedures, general recommendations cannot be drawn and treatment of infants with PRS still requires individualization.

Objective: To gather evidence surrounding the confusion in the classification of Robin sequence and inform those who have the power to make the changes in defining this symptom complex., Method: A questionnaire was sent to all participating cleft palate teams (N=204) of the American Cleft Palate-Craniofacial Association. The questionnaire identified the precise, different characteristics for diagnosing Robin sequence and evaluated whether the difference between a retrognathia and micrognathia influenced the diagnosis process. We subsequently also investigated whether the cleft type (i.e., U-shaped versus V-shaped) had any influence in the decision-making process. A PubMed literature review of the 50 most recent manuscripts about Robin sequence was evaluated also., Results: Seventy-three questionnaires were received. This 35% response rate revealed 14 different definitions of Robin sequence. A PubMed literature review of 50 consecutive manuscripts revealed 15 different descriptions., Conclusion: This study confirms that nosologic confusion is widespread with regard to defining Robin sequence. This has implications for evaluating Robin sequence, giving advice about the prognosis and genetic counseling, and refining treatment options.

Different nosology has hampered our understanding of patients with Robin sequence. Defining this disorder correctly has important consequences for physicians and parents. While reviewing treatment options for Robin sequence we were surprised to see how often different definitions were used to describe this condition. This prompted us to perform a review into the current understanding when diagnosing and defining this disorder. At our Annual Dutch Cleft Palate Meeting a questionnaire was given to all those attending requesting them to summarise characteristics needed for a definition of 'Robin sequence'. Sixty-six questionnaires were returned, demonstrating 29 different descriptions. Our study demonstrates that there is widespread confusion in the Netherlands defining Robin sequence. This lack of uniformity in the definition hampers the comparison of outcome studies. The treatment of patients with Robin sequence often involves multidisciplinary involvement, making it crucial to have one common definition. We suggest using the description originally summarised by Pierre Robin consisting of micrognathia, glossoptosis and airway compromise. Once the diagnosis of Robin sequence is made other adjuncts such as an associated cleft palate, syndrome or feeding problems could be added to the description.

Objective: Pierre Robin sequence (PRS) involves the triad of micrognathia, glossoptosis, and cleft palate. Neonates with PRS suffer from two problems--airway obstruction and feeding difficulties--but the severity of these problems varies greatly. The resultant varying definitions of PRS have resulted in inconsistent management of those babies given the diagnosis. This in turn makes comparison of published data and communication between clinicians difficult. Historically at Birmingham Children's Hospital, the cleft team only identified babies presenting with cleft palate and severe respiratory distress as "true" PRS. These babies were admitted to the high-dependency neonatal ward for airway assessment and management. Babies with a mild degree of respiratory obstruction but who were managed successfully at home were not classified as having PRS despite needing considerable input from the Cleft Clinical Nurse Specialist. A system of classifying babies with PRS based on the severity of their symptoms and signs and treatment required was therefore devised and is described in this paper., Results: Since implementation, this new classification of babies with PRS into three grades has clarified care pathways and enhanced communication between the Cleft Clinical Nurse Specialists and other health professionals involved with the care of these babies.

Background: The aim of this retrospective study was to evaluate speech outcome and need of a pharyngeal flap in children born with nonsyndromic Pierre Robin Sequence (nsPRS) vs syndromic Pierre Robin Sequence (sPRS)., Methods: Pierre Robin Sequence was diagnosed when the triad microretrognathia, glossoptosis, and cleft palate were present. Children were classified at birth in 3 categories depending on respiratory and feeding problems. The Borel-Maisonny classification was used to score the velopharyngeal insufficiency., Results: The study was based on 38 children followed from 1985 to 2006. For the 25 nsPRS, 9 (36%) pharyngeal flaps were performed with improvements of the phonatory score in the 3 categories. For the 13 sPRS, 3 (23%) pharyngeal flaps were performed with an improvement of the phonatory scores in the 3 children. There was no statistical difference between the nsPRS and sPRS groups (P = .3) even if we compared the children in the 3 categories (P = .2)., Conclusions: Children born with nsPRS did not have a better prognosis of speech outcome than children born with sPRS. Respiratory and feeding problems at birth did not seem to be correlated with speech outcome. This is important when informing parents on the prognosis of long-term therapy.

Objective: To evaluate the course and prognosis of airway obstruction and feeding difficulty in the Pierre Robin sequence (PRS)., Methods: Retrospective review of 60 patients with PRS between 1993 and 2002 at the University of California, Davis Medical Center. Patients were placed into diagnostic subgroups: (1) Isolated PRS; (2) Syndromic PRS (known syndrome with PRS); (3) Unique PRS (unique anomalies with PRS). Data regarding severity, duration, and management of airway obstruction and feeding difficulty were collected., Results: Airway obstruction requiring intervention beyond positional therapy was seen in 28% isolated, 42% syndromic, and 58% unique PRS. One-third of patients who failed positional therapy were temporarily stabilized with a nasopharyngeal airway or endotracheal intubation. The remaining two-thirds of patients, who failed positional therapy required a surgical airway procedure. Four patients underwent mandibular distraction osteogenesis, resulting in successful decannulation or avoidance of tracheostomy. Thirteen patients underwent tracheostomy; mean duration of tracheostomy-dependence was 17.0 months in Isolated PRS and 31.7 months in Unique PRS (p < 0.01). Successful decannulation by age of 3 years was confirmed in 85% of patients who underwent tracheostomy. Tube feeding was required in 53% Isolated, 67% Syndromic, and 83% Unique PRS. Forty-two percent of PRS patients with a successful positional airway still demonstrated feeding difficulty. Short-term (0-3 months) and intermediate (4-18 months) tube feeding was more commonly required in Isolated and Syndromic PRS, while long-term (beyond 18 months) gastrostomy tube feeding was more commonly required in Unique PRS (p < 0.01). By 3 years of age, a successful oral diet was seen in 91% Isolated, 92% Syndromic, and 78% Unique PRS., Conclusions: Diagnostic subgroups based on the presence of additional anomalies help families and physicians in understanding the severity and duration of feeding and airway difficulty in PRS. Two-thirds of PRS patients who fail positional therapy may ultimately require a surgical airway procedure. Feeding difficulty can be present in the absence of clinically significant airway obstruction. Families and physicians should be encouraged that by 3 years of age, most patients were successfully taking an oral diet without airway obstruction.

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome. Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six. Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.

Closure of the palate is an operation with a higher risk of postoperative hypoxaemia than other plastic surgical procedures. An increase in anaesthetic complications was noticed among our children with a cleft palate who were operated on with a palatoplasty, and this was further investigated. The records of 154 patients operated on between 1979 and 1996 were eligible for the study. A total of 128 had isolated cleft palate (ICP), 19 had Pierre Robin syndrome (PRS), and seven had other identified syndromes (IS). The results showed that the risk of anaesthetic complications was four times greater when the operation was done when the child was less than 1 year old, and there was a sixfold increase when a more elaborate velopharyngoplasty technique was used. Children with Pierre Robin syndrome were further classified according to the degree of neonatal difficulties. The 12 children with most severe problems were at increased risk. When the diagnostic criteria as well as the type of operation were taken into account the incidence of anaesthetic complications was 7/11, which was the highest risk encountered in the present study. When the first operation on the palate in children with Pierre Robin syndrome is planned, it should be based on a classification of neonatal problems and an investigation of their clinical condition. In children at risk the palatoplasty procedure should be postponed until the age of 12-18 months.

Objective: To study the clinical course of patients with Robin sequence (RS) during the first 6 months of life., Design: A longitudinal prospective study of children with RS., Setting: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brazil, 1997 and 1998., Patients: Sixty-two children were studied from hospital admission to 6 months of age. Thirty-three (53.2%) presented with probable isolated RS (PIRS), 25 (40.3%) presented with syndromes or other malformations associated with RS, and 4 (6.5%) presented with RS with neurological involvement., Interventions: The type of respiratory tract obstruction was defined by nasopharyngoscopy. The patients with type 1 and type 2 obstruction underwent nasopharyngeal intubation (NPI), and glossopexy was indicated in patients with type 1 obstruction who did not show clinical improvement with this procedure. Tracheostomy was indicated in patients with type 2 obstruction who did not show a good course after NPI, in patients with type 1 obstruction who did not show good course after glossopexy, and in patients with type 3 and type 4 obstruction., Results: Prone position treatment (PPT) or NPI was the definitive treatment in 25 cases (75.8%) of PIRS and in 13 cases (52%) of syndromes or other malformations. Among the children with type 1 obstruction, 24 (51.1%) were submitted exclusively to PPT and 12 (25.5%) to NPI. With the type 2 groups, only one (12.5%) received PPT, and three (37.5%) were treated exclusively with NPI. All 15 infants treated exclusively with NPI (24.4%) presented with good weight, length, and neuromotor development., Conclusions: Most patients with PIRS and type 1 obstruction improved without surgical intervention. NPI should be the initial treatment in all patients with RS with type 1 and type 2 obstruction who present with important respiratory and feeding difficulties.

All children admitted to our hospital between 1964 and 1991 with a diagnosis of Pierre Robin sequence were divided into three groups according to the severity of their symptoms: group I: adequate respiration in prone position and bottle feeding; group II: adequate respiration in prone position but feeding difficulties requiring gavage; and group III: children with respiratory distress and endotracheal intubation and gavage. The presence of associated anomalies, prematurity, and psychomotor impairment was noted as well as the surgical interventions performed. We found 56 children (44.8 percent) in group I, 40 children (32 percent) in group II, and 29 children (23.2 percent) in group III. Seventeen children (13.6 percent) died: 1 of 56 in group I, 4 of 40 in group II, and 12 of 29 in group III. Among the 125 patients, 57 presented at least one associated anomaly other than a cleft palate and the Pierre Robin triad. Thirteen deaths were found in this group (13 of 57 = 22.8 percent). Ten children were premature (10 of 125), and 6 of the premature infants died (60 percent). Twenty-two children required at least one surgical procedure to relieve the upper airway obstruction. Among the 108 survivors in this study, 25 presented a psychomotor impairment (23.1 percent). The children admitted after 1986 were submitted to routine serial blood gases, oxygen saturation monitoring, and polysomnographic recordings. The therapeutic interventions were done earlier. Thirty-four children were followed after 1986: 14 in group I, 11 in group II, and 9 in group III.(ABSTRACT TRUNCATED AT 250 WORDS)

During the last few years, our knowledge of Pierre Robin syndrome has benefited from advances in embryonic neurobiology. It has been shown that the syndrome is related to an anomalous development of the foetal brainstem. A multidisciplinary study makes it possible to value prospectively the various anomalies with which it may be associated and to decide on a coherent treatment. This type of management should reduce the mortality and prevent the sequelae of Pierre Robin syndrome.

Pierre Robin syndrome is typically characterized by glossoptosis and retrognathia associated with cleft palate, respiratory and deglutition disturbances. Two morphological tendencies arise out of this 70-patient series, 50 of whom were managed with the same therapeutical regimen, which included labioglossopexy and was associated with only one case of death: "deforming" type Pierre Robin syndrome most commonly follows a favorable course with respect to both function and facial deformations, provided labioglossopexy is carried out sufficiently early. Indeed, this surgical operation allows for prompt restoration of normal function, thereby limiting the dysfunction-deformation vicious circle. This form of Pierre Robin syndrome may find its origin in the embryo's abnormal amniotic environment. "Malformation"-associated Pierre Robin syndrome often presents with combined anomalies, respiratory disturbances that may evolve into severe airway problems, impaired deglutition and abnormal brain development; in most cases, labioglossopexy will dramatically improve the immediate state of the child, although long-term prognosis as regards malformation is rather guarded.

The Robin anomalad, once thought to constitute a specific syndrome, is now known to occur with several genetic syndromes, a few drug-induced syndromes, and some loosely associated anomalies. The mode of inheritance in genetic syndromes with the Robin anomalad is that of the particular syndrome with which the anomalad is associated.

The oromandibular limb hypogenesis syndrome is a group of anomalies affecting the mandible, tongue, and maxilla with or without reductive limb anomalies. Their genetic origin is uncertain, and no drug-induced teratogen has been clearly identified. Although many similarities exist on both an embryologic and clinical level, distinction between these entities is appropriate. A new classification system with these principles in mind is presented. Two cases are presented of glossopalatine ankylosis with hypodactyly representing the thirteenth and fourteenth cited in the world literature. One patient presented with a fatal pulmonary hypoplasia not previously reported in association with this syndrome. Three of the 14 cases with reductive limb anomalies reported have had fatal outcomes.

For many years clinicians have known the coincidental presentation of micrognathia, glossoptosis and cleft palate as the Pierre Robin syndrome. In conferences in 1974 and 1975 the term "Anomalad" was introduced which by definition is a primary malformation with superimposed secondary structural changes and the Pierre Robin syndrome became known as the Robin Anomalad. The concept was based on experimental observations available at that time. However, since that date further studies have demonstrated that administration of drugs to pregnant female rodents can produce coincidental failure of normal development of both mandible and palate. In the light of this work a critical review is made of the evidence upon which the mechanistic view of the condition evolved and an alternative hypothesis developed. From animal experimentation it can be argued that the nature of the condition is not mechanical and is more likely to be metabolic. Indeed, confirmatory evidence in man has recently been presented from Finland. If this is the case it may be erroneous to consider the Robin malformations as an "Anomalad" and mandibular maxillary agenesis would probably be a more accurate term.

Rhombencephalic failure of the suction-swallowing, excess of central and obstructive ventilatory arrests with hypoxia and hypercapnia, vagal hypertonia and esophagogastric motor abnormalities are the new clinical signs observed in children presenting with the Pierre Robin's syndrome. A therapeutic management adapted to each of the types I, II, III of the syndrome were defined and a good nursery-nursing allowed a reduction in the mortality-rate from 27 to 5%. Still considered by some as a malformative and glossoptosing disorder whose etiology is only bucco-pharyngeal in origin, this syndrome, common to numerous embryopathies, is a precocious embryonal abnormality of the brain stem neurogenesis, expressed by the dramatic failure of the physiological oro-ventilation system. This syndrome appears to be a peculiar form of dysautonomia of the brain stem development with an uncertain future, often transitory, isolated or associated but in the heart of pediatric internal medicine and its multi-disciplinarity.