CASE SUMMARY : AN INTERESTING CASE OF PIERRE ROBIN SEQUENCE

Prenatal Diagnosis, 2015

Objective To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). Method All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison. Results From a prenatal ultrasound database of 166 000 cases, 157 had one or more of the sonographic signs suggestive of PRS and had follow-up available. Of them, 33 (21%) had confirmed PRS, 9 (6%) were normal and 115 (73%) had chromosomal aberrations, associated malformations or neurological anomalies. Visualization of a posterior cleft palate in addition to retro-micrognathia had a positive predictive value of 100% for PRS. The distribution of functional severity grades was similar in cases suspected prenatally as in 238 cases of PRS followed in the referral center in Necker Hospital. Conclusion Only a minority of cases of fetal retrognathia have complete PRS; the majority have other severe conditions. Prenatal prediction of functional severity of isolated PRS is not possible.

E3S Web of Conferences, 2021

Pierre Robin’s sequence PRS is a congenital malformative sequence with a retrognathism, a glossoptosis and an upper respiratory obstruction with an associated cleft palate. This malformative association can be disabling for both the child and his parents, because of its aesthetic, functional, psychological and social impacts. Patients and methods: We have investigated 14 patients with PRS presenting cleft palates, collected over a period of 5 years, from March 2014 to November 2019 in the pediatric surgical emergencies department (PSE) in Rabat Children’s Hospital (HER). Results: Nine of the 14 patients had a complete cleft palate. The average age of intervention was 23 months ranging from 13 months to 4 years. The study showed a slight female predominance (n = 8, 57%). Regarding the treatment, 3 patients were treated with the Bardach’s technique, 3 had the Von Langenbeck’s technique, 3 had the Push-back technique and one patient who suffered from a post-operative persisting velar d...

Fetal Diagnosis and Therapy, 2015

Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.

Pediatric Sciences Journal

Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate or be part of a known syndrome as VACTREL or CHARGE, or be associated with other malformations as congenital heart disease, lung malformations, musculoskeletal system anomalies, and hereditary progressive arthro-ophthalmopathy. We report a neonate with PRS who presented by choanal atresia, sepsis, single ventricle, large ventricular septal defect; large patent ductus arteriosus, anorectal malformation in the form of high imperforate anus and rectovesical fistula. Anorectal malformation was not previously reported in Pierre Robin sequence. We report that single ventricle and anorectal malformation are rare associations of PRS. Examination for anorectal malformation, prompt diagnosis and initiation of specific management is life-saving in any neonate and especially in those with structural malformations or deformities of PRS.

Frontiers in Pediatrics, 2018

retrognathia and glossoptosis were not predictive factors for the severity of respiratory and feeding disorders. Conclusion : 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.

Acta Scientific MEDICAL SCIENCES, 2023

The early hour life of newborn is an ambiguous and challenging period in human life which need careful and intelligent monitoring to obtain better life outcomes. Pierre Robin Sequence one of the rare syndrome that is observed shortly after or before the birth. PRS is a group of malformation in the baby that develop during pregnancy. It is called a casade because one of its definite features − an undeveloped lower jaw − initiate a casade of other deformities while the baby is developing in uterus and can ultimately lead to postnatal upper airway obstruction and life threatening condition that lead to eventual death. Aim: The purpose of the study was to highlight the significance of three-dimensional ultrasound in the screening of fetal micrognathia and highlight the diagnostic features of infant with Pierre Robin syndrome; to establish an early assessment approach for better outcomes of infant life. Methodology: A systematic literature review depends on collecting data from an evidence based studies. Searches were made of twenty five electronic databases: the Cochrane Oral Health Group's Trials Register, The Cochrane Central Register of Controlled Trials (CENTRAL), EMBASE, PsycINFO, Scopus and Web of science, MEDLINE (PubMed). Results: There is a strong association between breathing difficulty, feeding difficulty in infant and the small size of mandible which affect on fetus shelf life. Conclusion: PRS is a rare anomaly so raise the awareness to this syndrome should be increased between different physicians. Prenatal diagnosis is very important step for appropriate treatment decision by parents before delivery and to arrange with a multidisplinary team to assessment the condition postnatal to reduce the short and long term complications and treatments.

2017

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 ...

The Cleft Palate-Craniofacial Journal, 2006

A wide spectrum of anomalies can be associated with Pierre Robin sequence. This report presents a 3-day-old infant with micrognathia, U-shaped cleft palate, low-set right ear with microtia, glossoptosis, esophageal atresia, and right congenital radioulnar synostosis. The association of congenital radioulnar synostosis and esophageal atresia with Pierre Robin sequence has not been previously described.

Annals of Maxillofacial Surgery, 2016

The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management. Aims of Part 1: Display disparities of the widely published subject of PRS that exist within the literature. Subjects and Methods: A literature search related to diagnostic criteria was compared to findings of one of the largest PRS databases worldwide. Results: Regarding diagnostic criteria two subdivisions, the Fairbairn-Robin triad (FRT) and the Siebold-Robin sequence (SRS) can be clearly distinguished. Both present with micrognathia and glossoptosis, the former with, the latter, however, without a palatal cleft. Conclusions: According to clear diagnostic criteria, PRS has to be subdivided in the future into FRT and SRS cases, as they may require different treatment approaches.

Turkish Journal of Orthodontics

Objective: Pierre Robin Sequence (PRS) is a heterogeneous pathological condition characterized by the coexistence of micrognathia, glossoptosis, and cleft palate, resulting in upper airway tract obstruction. Among the treatment modalities, the orthodontic approach is one part of the comprehensive care of those patients and will be present in the treatment modalities during all the growth period of the child. Methods: All patients with PRS observed in the period 2013-2017 were treated with a definite functional approach. The results were retrospectively analyzed with regard to functional outcome, total treatment time, and number of plates provided for a single patient. Results: In all the patients, the indicated treatment protocol has been applied as early impression and plate supply, stimulation of bottle feeding with the use of the plate, eventual substitution of the plate if no more adequate to the transverse and sagittal growth of the palate, and continuing the use until the surgical closure of the cleft. All the patients showed a positive outcome to the proposed treatment approach, evaluated with regard to the incidence of feeding improvement and weight gain, to the limit for the surgical phase, in the absence of adverse effects. Conclusion: The use of a functional obturator plate, removing functional alterations to mandibular growth, reduces and, in some cases, eliminates the need for surgical intervention. As also stated in the literature, if despite the presence of the plate nutritional problems persist, immediate different surgical approaches, mainly mandibular osteodistraction, become necessary.