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The Angle Orthodontist May 2012The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal...
The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.
Topics: Cephalometry; Child; Ear; Ear Diseases; Facial Asymmetry; Female; Humans; Malocclusion, Angle Class III; Mandible; Mandibular Condyle; Orthodontics, Corrective; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Pedigree; Retrognathia
PubMed: 22050072
DOI: 10.2319/052911-356.1 -
Sleep Medicine Reviews Jun 2016Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with... (Review)
Review
Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
Topics: Airway Obstruction; Child; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Humans; Pierre Robin Syndrome; Sleep Apnea, Obstructive; Tonsillectomy; Tracheostomy
PubMed: 26454241
DOI: 10.1016/j.smrv.2015.05.010 -
Frontiers in Pediatrics 2018Pierre Robin sequence (PRS) may lead to life-threatening respiratory and feeding disorders. With the aim to analyse the association of the severities of retrognathia and...
Pierre Robin sequence (PRS) may lead to life-threatening respiratory and feeding disorders. With the aim to analyse the association of the severities of retrognathia and glossoptosis with those of respiratory and feeding disorders, we retrospectively studied a series of 50 infants with retrognathia, glossoptosis, cleft palate, and airway obstruction. The patients were managed from birth to at least 6 years of age by a single pediatric team at the Armand Trousseau Hospital in Paris within a 12 years period (2000-2012). Retrognathia and glossoptosis were graded in the neonatal period according to a specific clinical examination. Ventilation assistance was required for 32/50 (64%) patients, and enteral feeding for 41/50 (82%). The grades of retrognathia and glossoptosis and the severity of respiratory disorders did not differ between patients with isolated PRS and syndromic PRS. Severe respiratory disorders were more common and long-lasting feeding (>12 months) was more frequently required in patients with syndromic PRS compared with isolated PRS (42 vs. 13%, = 0.04 and 42 vs. 4%, < 0.01 respectively). Using univariate analysis, neurological impairments and laryngomalacia were associated with severe respiratory disorders [Odds ratio (OR) 5.0, 95% CI 1.3-19.6; and OR 14.6, 95% CI 1.3-161.4; < 0.05] as well as with long-lasting feeding (>12 months) disorders (OR 18.6, 95% CI 3.9-89.2 and OR 20.4, 95% CI 3,4-122.8; < 10). Syndromic SPR status was also associated with severe respiratory disorders (OR 4.9, 95% CI 1-32.5; < 0.05). Using multivariate analysis, only syndromic PRS status was predictive for severe respiratory disorders (adjusted OR 8, 95% CI 1.47-44.57; < 0.05); and only neurological impairments remained a significant risk for long lasting feeding disorders (>12 months) (adjusted OR 21.72, 95% CI 3.4-138.63; < 10). The grades of retrognathia and glossoptosis were not predictive factors for the severity of respiratory and feeding disorders. : In children with PRS, the severity of clinical conditions may not correlate with anatomic variables but rather with laryngeal abnormalities, neurological impairement and syndromic PRS status.
PubMed: 30525013
DOI: 10.3389/fped.2018.00351 -
Journal of Multidisciplinary Healthcare 2017Robin sequence (RS) is a commonly encountered triad of micrognathia, glossoptosis, and airway obstruction, with or without a cleft palate. The management of airway... (Review)
Review
Robin sequence (RS) is a commonly encountered triad of micrognathia, glossoptosis, and airway obstruction, with or without a cleft palate. The management of airway obstruction is of paramount importance, and multiple reviews and retrospective series outline the diagnosis and treatment of RS. This article focuses on the multidisciplinary nature of RS and the specialists' contributions and thought processes regarding the management of the RS child from birth to skeletal maturity. This review demonstrates that the care of these children extends far beyond the acute airway obstruction and that thorough monitoring and appropriate intervention are required to help them achieve optimal outcomes.
PubMed: 28392703
DOI: 10.2147/JMDH.S98967 -
Seminars in Plastic Surgery May 2012Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a...
Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a hypoplastic mandible and difficulty breathing. The smaller mandible displaces the tongue posteriorly, resulting in obstruction of the airway. Typically, a wide U-shaped cleft palate is also associated with this phenomenon. PRS is not a syndrome in itself, but rather a sequence of disorders, with one abnormality resulting in the next. However, it is related to several other craniofacial anomalies and may appear in conjunction with a syndromic diagnosis, such as velocardiofacial and Stickler syndromes. Infants with PRS should be evaluated by a multidisciplinary team to assess the anatomic findings, delineate the source of airway obstruction, and address airway and feeding issues. Positioning will resolve the airway obstruction in ~70% of cases. In the correct position, most children will also be able to feed normally. If the infant continues to show evidence of desaturation, then placement of a nasopharyngeal tube is indicated. Early feeding via a nasogastric tube may also reduce the amount of energy needed and allow for early weight gain. A proportion of PRS infants do not respond to conservative measures and will require further intervention. Prior to considering any surgical procedure, the clinician should first rule out any sources of obstruction below the base of the tongue that would necessitate a tracheostomy. The two most common procedures for treatment, tongue-lip adhesion and distraction osteogenesis of the mandible, are discussed.
PubMed: 23633934
DOI: 10.1055/s-0032-1320065 -
Molecular Syndromology Apr 2021Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory... (Review)
Review
Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
PubMed: 34012376
DOI: 10.1159/000513217 -
Indian Journal of Otolaryngology and... Sep 2021Hereditary hearing loss accounts for nearly 60% of deafness in developed countries and about 30% of them are syndromic. Pierre Robin Syndrome is one such condition. The...
Hereditary hearing loss accounts for nearly 60% of deafness in developed countries and about 30% of them are syndromic. Pierre Robin Syndrome is one such condition. The patient with this syndrome usually presnts with triad of micrognathia, glossoptosis and cleft palate. Hearing loss is mostly conductive but there can be sensorineural hearing loss also. Here we present a case of Pierre Robin Syndrome who presented with congenital hearing loss. He also had bilateral serous otitis media. He underwent cochlear implant surgery and was prescribed antihistaminics and steroid spray for middle ear effusion. Therefore, proper clinical evaluation is required.
PubMed: 34471629
DOI: 10.1007/s12070-020-02331-9