Pierre Robin Sequence

BACKGROUND: Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS. CASE PRESENTATION: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11...

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c...

Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG...

The concentration and composition of the gliadin and glutenin seed storage proteins (SSPs) in wheat flour are the most important determinants of its end-use value. In cereals, the synthesis of SSPs is predominantly regulated at the transcriptional level by a complex network involving at least five cis-elements in gene promoters. The high-molecular-weight glutenin subunits (HMW-GS) are encoded by two tightly linked genes located on the long arms of group 1 chromosomes. Here, we sequenced and annotated the HMW-GS gene promoters of 22 electrophoretic wheat alleles to identify putative cis-regulatory motifs...

BACKGROUND: Prior studies report a high incidence of airway complications in patients with Robin sequence following palatoplasty. The authors' institution uses polysomnography to assess risk of airway compromise before palatoplasty in Robin sequence. This study compares airway complications in Robin sequence to cleft palate only using this screening airway protocol and identifies risk factors for airway complications after palatoplasty. METHODS: A 12-year retrospective review of patients with Robin sequence undergoing palatoplasty was performed...

BACKGROUND: The authors report the cause of and risk factors for mortality in infants with Robin sequence and identify characteristics associated with quality-of-life outcomes. METHODS: The authors performed an 11-year retrospective review of all infants with Robin sequence treated at a neonatal intensive care unit. Patient characteristics were correlated to mortality and quality-of-life measures. Emergency room visits and hospital admissions were used to assess quality-of-life outcomes...

Difficult intubation of a 2.4 kg ex premature, suspected Pierre Robin Sequence with upper airway obstruction causing respiratory failure. Multiple failed intubation attempts by an experienced pediatric anesthetist using described techniques and adjuncts. A description of a simple new maneuvre using a GlideScope and a stylet. By twisting the stylet into a spiral shape, the endotracheal tube was given improved maneuverability that allowed the intubator to place the endotracheal tube tip to the glottis opening...

No abstract text is available yet for this article.

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder characterized by multiple rib abnormalities, micrognathia described as Pierre-Robin sequence, and cerebral involvement. Appropriate management of respiratory distress immediately after birth is crucial to rescue these patients. A boy, having a mother with Pierre-Robin sequence and a sister with CCMS, was diagnosed prenatally with CCMS and successfully treated with ex utero intrapartum treatment (EXIT) at 36 weeks 6 days of gestation. EXIT would be an effective option for rescuing patients with prenatally diagnosed CCMS and preventing neonatal hypoxia...

Pierre Robin malformation is a rare craniofacial dysmorphism whose pathogenesis is multifactorial. Although there is some agreement in non-invasive treatment in less severe cases, the dispute is still open on cases with severe respiratory impairment. We present a semi-automatic novel diagnostic tool for calculating upper airway volume, in order to eventually address surgery in patients with Pierre Robin Sequence (PRS). Multidetector CT datasets of two patients and two controls were tested to assess the proposed method for ROI segmentation, upper airway volume computation and three-dimensional reconstructions...

Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb minimum region of overlap among four de novo deletions and one mother-son inherited deletion associated with at least one component of PRS...

Pierre Robin sequence (PRS) is a combination of micrognathia and glossoptosis that leads to airway obstruction, feeding problems, and potentially other sequelae that can complicate early life. Currently, therapy for these newborns and infants is focused on preventing fatality or complications until the jaw can grow sufficiently to correct airway obstruction and associated problems. For patients with mild PRS, treatments include conservative measures such as airway maintenance and a feeding tube. For more severe cases, a surgical procedure is necessary...

BACKGROUND: To investigate birth prevalence of Robin Sequence (RS), distribution of implemented treatments and factors influencing weight gain during initial hospitalisation. METHODS: Prospective population-based survey (August 2011-July 2013) on new hospital admissions of infants with RS in Germany. RS was defined as retrognathia/micrognathia and at least one of the following: upper airway obstruction, snoring or hypoxaemia; glossoptosis; feeding difficulties; failure to thrive; cleft palate or RS-associated syndrome...

OBJECTIVE: To document the mode and age of primary aerodigestive presentation of Pierre Robin sequence/complex (PRS/C) children to the otolaryngologist and to explore predictive factors of upper airway type and management. METHODS: This is a retrospective cohort study conducted in a tertiary pediatric referral center. A prospective surgical database was searched for children who were diagnosed with PRS/C. Demographics, presenting complaint, secondary diagnoses, type of upper airway obstruction, secondary airway lesions, presence of cleft palate, and airway interventions were collected...

BACKGROUND: Craniofacial malformations including cleft lip and/or palate (CL/P) increase risk for obstructive sleep apnea (OSA). While 30% of CL/P occurs in the context of underlying genetic syndromes, few studies have investigated the prevalence of OSA in this high-risk group. This study aims to determine the incidence and risk factors of positive screening for OSA in this complex patient population. METHODS: The Pediatric Sleep Questionnaire (PSQ) was prospectively administered to all patients cared for by the cleft lip and palate clinic at the Children's Hospital of Philadelphia between January 2011 and August 2013...

OBJECTIVE: To describe the frequency of hypodontia and left-right symmetry of hypodontia in the permanent dentition of children with Pierre Robin sequence (PRS). PATIENTS AND METHOD: The sample consisted of 78 children born with PRS between 1980 and 2006 and referred to the Oslo Cleft Lip and Palate Team (OCLPT). Data were collected retrospectively from the archives of the OCLPT. Panoramic radiographs were evaluated to document hypodontia; third molars were excluded...

Congenital craniofacial malformations such as Pierre Robin sequence or Treacher Collins syndrome are associated with mandibular micrognathia, resulting in obstructive sleep apnea (OSA) due to a decreased pharyngeal airway; in severe cases this leads to tracheostomy dependence. We present a series of 18 patients in whom we performed mandibular lengthening using internal distraction devices to relieve airway obstruction. Seven were tracheostomy-dependent and 11 were respiratory distressed without tracheostomy...

OBJECTIVE: To evaluate costs associated with surgical treatment for neonates with Pierre Robin sequence (PRS). STUDY DESIGN: Retrospective cohort study. SETTING: Cincinnati Children's Hospital Medical Center. SUBJECTS AND METHODS: With Institutional Review Board approval, we retrospectively studied neonates with PRS treated from 2001 to 2009 with either tracheostomy (Trach), mandibular distraction (MD), or Trach with subsequent MD (Trach+MD)...

The clinical triad of micrognathia (small mandible), glossoptosis (backward, downward displacement of the tongue), and airway obstruction defines the Pierre Robin sequence (PRS). Airway obstruction and respiratory distress are clinical hallmarks. Patients may present with stridor, retractions, and cyanosis. Severe obstruction results in feeding difficulty, reflux, and failure to thrive. Treatment options depend on the severity of airway obstruction and include prone positioning, nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis, and tracheostomy...

No abstract text is available yet for this article.