Pierre Robin Sequence

We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding.

BACKGROUND: Associated comorbidities can put syndromic patients with cleft palate at risk for poor speech outcomes. Reported rates of velopharyngeal insufficiency (VPI) vary from 8% to 64%, and need for secondary VPI surgery from 23% to 64%, with few studies providing long-term follow-up. The purpose of this study was to describe our institutional long-term experience with syndromic patients undergoing cleft palatoplasty. METHODS: A retrospective review was conducted of all patients with syndromic diagnoses undergoing primary Furlow palatoplasty from 1975 to 2011...

OBJECTIVES/HYPOTHESIS: To estimate the current birth prevalence of isolated and syndromic Pierre Robin sequence (iPRS and sPRS), including demographic variations. To assess for regional variations in surgical airway interventions for PRS, and to determine the mean length of stay (LOS), cost of admission, complication rate, and rate of associated procedures related to tongue-lip adhesion (TLA), neonatal mandibular distraction osteogenesis (MDO), and tracheotomy. STUDY DESIGN: Retrospective cross-sectional study...

INTRODUCTION: Mandibular distraction osteogenesis (MDO) for the treatment of Pierre Robin sequence (PRS) enables mandibular lengthening and improves airway and feeding function. It remains unknown how the post-distracted mandibular volume compares to a normal control population. The aim of this study was to analyze mandibular volume and symmetry following bilateral MDO and compare post-distraction measurements to a non-distracted, normal age- and sex-matched control cohort. METHODS: Demographic information and three dimensional-computed tomographic (CT) images were obtained from normal control and distracted PRS patients...

BACKGROUND: Brain malformations represent a major cause of refractory seizures. Standardized protocols to treat status epilepticus of newborn are not available in the literature. PATIENT: We present a case report of use of ketamine administered to a late preterm with Pierre Robin sequence, lissencephaly, polymicrogyria, and severe epilepsy. RESULTS: The infusion of ketamine permitted resolution of status epilepticus, cardiorespiratory stabilization, and improved parental care for 15 days...

Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions, and duplications within a ∼2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ∼1...

Trichuris (whipworm) infects 1 billion people worldwide and causes a disease (trichuriasis) that results in major socioeconomic losses in both humans and pigs. Trichuriasis relates to an inflammation of the large intestine manifested in bloody diarrhea, and chronic disease can cause malnourishment and stunting in children. Paradoxically, Trichuris of pigs has shown substantial promise as a treatment for human autoimmune disorders, including inflammatory bowel disease (IBD) and multiple sclerosis. Here we report whole-genome sequencing at ∼140-fold coverage of adult male and female T...

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Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector...

Campomelic dysplasia (CD) is a skeletal dysplasia characterized by Pierre Robin sequence (PRS), shortened and bowed long bones, airway instability, and the potential for sex reversal. A subtype of CD, acampomelic CD (ACD), is seen in approximately 10% of cases and preserves long bone straightness. Both syndromes are caused by alterations in SOX9, with translocations and missense mutations being overrepresented in ACD cases. We report a term infant with PRS, severe cervical spine abnormalities, eleven rib pairs, hypoplastic scapulae, and female genitalia...

Pierre Robin Sequence (PRS) is a congenital abnormality characterized by mandibular hypoplasia, glossoptosis and often secondary palate cleft. It may be an isolated or part of a most complicated syndrome. The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by skeletal abnormalities, joint pain, congenital myopia and retinal detachment. The authors describe their fast and early mandibular osteodistraction (FEMOD) protocol in severe cases of PRS airway obstruction.

The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. In its milder form, the SOX9 mutation is not necessarily associated with the bent long bones. Here, we report a patient with the Pierre-Robin sequence and talipes equinovarus who did not exhibit either bent long bones or scapular hypoplasia; thus, this patient was instead classified as having a type 2 collagen disorder...

INTRODUCTION: Individuals with Pierre Robin sequence (PRS) frequently have tooth agenesis, especially in the mandible. The aims of this study were to characterize permanent tooth agenesis patterns and to determine their prevalence in patients with nonsyndromic PRS. METHODS: Radiographs and clinic charts of 146 children with nonsyndromic PRS were examined for permanent tooth agenesis, excluding third molars, and the tooth agenesis patterns were identified with the tooth agenesis code...

Cleft palate (CP) is one of the most commonly occurring craniofacial birth defects in humans. In order to study cleft palate in a naturally occurring model system, we utilized the Nova Scotia Duck Tolling Retriever (NSDTR) dog breed. Micro-computed tomography analysis of CP NSDTR craniofacial structures revealed that these dogs exhibit defects similar to those observed in a recognizable subgroup of humans with CP: Pierre Robin Sequence (PRS). We refer to this phenotype in NSDTRs as CP1. Individuals with PRS have a triad of birth defects: shortened mandible, posteriorly placed tongue, and cleft palate...

INTRODUCTION: Cleft palate is a relatively common deformity with various techniques described for its repair. Most techniques address the hard palate portion of the cleft with bilateral mucoperiosteal flaps transposed to the midline. This results in superimposed, linear closure layers directly over the cleft and may predispose the repair to oronasal fistula formation. This report details an alternative technique of flap rotation with an outcome analysis. METHODS: A retrospective chart analysis was performed of all patients having undergone primary palatoplasty for cleft palate...

STUDY OBJECTIVE: The purpose of this study was to investigate the frequency of sleep disordered breathing (SDB) symptoms in a clinical sample of children with congenital craniofacial malformations (CFM) followed at a tertiary medical center and non-selected for sleep problems. METHODS: Cross-sectional study of 575 children aged 2-18 years followed at the Craniofacial Anomalies Program between March 2007 and May 2011. The Sleep-Related Breathing Disturbance scale of the Pediatric Sleep Questionnaire was used to screen for SDB, snoring, and sleepiness...

Temporomandibular joint ankylosis (TMJA) is a severe disorder described as an intracapsular union of the disc-condyle complex to the temporal articular surface with bony fusion. The management of this disability is challenging and rarely based on surgical and rehabilitation protocols. We describe the treatment in two young adults affected by Goldenhar syndrome and Pierre Robin sequence with reankylosis after previous surgical treatments. There are three main surgical procedures for the treatment of TMJA: gap arthroplasty, interpositional arthroplasty, and joint reconstruction...

The neonatal morbidity and mortality associated with Pierre Robin sequence has decreased with improved nonsurgical and surgical methods for airway protection. With the introduction of distraction osteogenesis and the understanding that improved outcomes occur with a systematic approach to patient management that includes mandibular distraction for appropriate candidates, the proportion of severely micrognathic patients requiring tracheostomies can be decreased. The challenge to institutions is to implement and optimize systematic methods for evaluation and treatment of these neonates to achieve timely, consistent, and cost-effective outcomes...

IMPORTANCE: Patients with severe micrognathia are predisposed to airway obstruction. Mandibular distraction osteogenesis (MDO) is an alternative to tracheotomy that lengthens the mandible in order to improve the retrolingual airway. This study presents outcomes from one of the largest cohorts reported. OBJECTIVE: To assess the rate and predictors of surgical success and complications among (1) patients who underwent MDO prior to other airway procedures (MDO first), and (2) patients who required an initial tracheotomy and were subsequently treated with MDO (tracheotomy first)...