OBJECTIVE: To explore the genetic basis for a neonate with Pierre-Robin sequence. METHODS: The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis. RESULTS: The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. He was found to have a karyotype of 46,XY,der(4)add(4)(q34). Her mother's karyotype was determined as 46,XX,t(1;4)(q43;q34), while his father was 46,XY. SNP-array analysis suggested the child to be arr [hg19] 1q42.2q44 (232 527 958-249 202 755)× 3; 4q34.3q35.2 (168 236 901-190 880 409)× 1. The result of SNP-array for both parents was normal. FISH analysis confirmed that his mother has carried a balanced t(1;4)(q42;34) translocation. The aberrant chromosome 4 in the child has derived from his mother's translocation, which gave rise to partial 1q trisomy and 4q monosomy. CONCLUSION The 1q42.2q44 duplication and 4q34.3q35.2 deletion of the child probably underlay his abnormal phenotype of Pierre-Robin sequence.
Child ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Monosomy ; Pierre Robin Syndrome/genetics* ; Translocation, Genetic ; Trisomy/genetics*

Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations. Although over 80 cases of CCMS have been reported to date, few cases of PRS with scoliosis alone have been reported. Therefore, this report demonstrated the clinical, radiological, and cephalometric characteristics of an adult patient with PRS and scoliosis, but without rib anomalies.
Adult ; Airway Obstruction ; Female ; Glossoptosis ; Humans ; Micrognathism ; Pierre Robin Syndrome ; Ribs ; Scoliosis

Pierre Robin sequence (PRS), also called Robin sequence, is a congenital anomaly characterized by a triad of micrognathia, glossoptosis, and upper airway obstruction. Infants with PRS can present with varying degrees of respiratory difficulty secondary to upper airway obstruction. There has been no consensus for the treatment of upper airway obstruction in infants with PRS, but recent studies recommend attempting non-surgical interventions before surgical treatment. In this case report, we present 3 cases of infants diagnosed with PRS who showed persistent respiratory difficulties after birth. Before considering surgical intervention, insertion of a nasopharyngeal airway was attempted in these infants. Following this procedure, symptoms of upper airway obstruction were relieved, and all infants were discharged without surgical interventions; the nasopharyngeal airway was removed 1 to 2 months later. To date, no infant has shown signs of upper airway obstruction. Nasopharyngeal airway insertion is a highly effective and less invasive treatment option for infants with PRS. However, it is not widely known and used in Korea. Nasopharyngeal airway insertion can be preferentially considered before surgical intervention for upper airway obstruction in such infants.
Airway Obstruction ; Consensus ; Glossoptosis ; Humans ; Infant ; Korea ; Micrognathism ; Parturition ; Pierre Robin Syndrome

Dysphasia related to oral anomaly is a common situation in oral and maxillofacial surgery. The etiology of oral anomalies causing dysphasia can be divided into congenital and acquired disease. Congenital diseases include teratoma or benign tumors and congenital defects such as cleft lip and palate. Benign tumors include cystic hygroma in the neck and hemangioma in the tongue. Certain syndromes with macroglossia and micrognathia are also related to difficulty in swallowing. The three common syndromes are Pierre-Robin syndrome, Beckwith-Widermann syndrome and ectodermal dysplasia. Taken together, these congenital diseases require a multi-discipline approach to obtain optimal results. Representative disease of acquired dysphasia is the oral cavity cancer. Cancer ablation results in tissue defect and decreased motor function. Free flap reconstruction is the choice of treatment following oral cavity caner operation; however, dysphasia after cancer operation is inevitable. In this review article, the full scopes of oral anomaly associated with dysphasia were classified and treatment was suggested.
Aphasia ; Cleft Lip ; Congenital Abnormalities ; Deglutition ; Ectodermal Dysplasia ; Free Tissue Flaps ; Hemangioma ; Lymphangioma, Cystic ; Macroglossia ; Micrognathism ; Mouth ; Mouth Neoplasms ; Neck ; Palate ; Pierre Robin Syndrome ; Surgery, Oral ; Teratoma ; Tongue

This is a brief clinical report describing an 18-month-old female with Robin sequence found to have an incidental mandibular cystic lesion on a head computed tomography scan in the preoperative workup before performing mandibular distraction. She underwent enucleation of the tumor, which was found to be a dentigerous cyst. One year following cyst enucleation, mandibular distraction was performed in order to alleviate her tongue-based obstruction. This case demonstrates the ability of the mandibular bone to successfully regenerate after undergoing cyst enucleation.
Child* ; Dentigerous Cyst* ; Female ; Head ; Humans ; Infant ; Mandible ; Pierre Robin Syndrome* ; Songbirds*

This is a brief clinical report describing an 18-month-old female with Robin sequence found to have an incidental mandibular cystic lesion on a head computed tomography scan in the preoperative workup before performing mandibular distraction. She underwent enucleation of the tumor, which was found to be a dentigerous cyst. One year following cyst enucleation, mandibular distraction was performed in order to alleviate her tongue-based obstruction. This case demonstrates the ability of the mandibular bone to successfully regenerate after undergoing cyst enucleation.
Child* ; Dentigerous Cyst* ; Female ; Head ; Humans ; Infant ; Mandible ; Pierre Robin Syndrome* ; Songbirds*

BACKGROUND: The indications for surgical airway management in patients with Robin sequence (RS) and severe airway obstruction have not been well defined. While certain patients with RS clearly require surgical airway intervention and other patients just as clearly can be managed with conservative measures alone, a significant proportion of patients with RS present with a more confusing and ambiguous clinical course. The purpose of this study was to describe the clinical features and objective findings of patients with RS whose airways were successfully managed without surgical intervention. METHODS: The authors retrospectively reviewed the medical charts of infants with RS evaluated for potential surgical airway management between 1994 and 2014. Patients who were successfully managed without surgical intervention were included. Patient demographics, nutritional and respiratory status, laboratory values, and polysomnography (PSG) findings were recorded. RESULTS: Thirty-two infants met the inclusion criteria. The average hospital stay was 16.8 days (range, 5–70 days). Oxygen desaturation (<70% by pulse oximetry) occurred in the majority of patients and was managed with temporary oxygen supplementation by nasal cannula (59%) or endotracheal intubation (31%). Seventy-five percent of patients required a temporary nasogastric tube for nutritional support, and a gastrostomy tube placed was placed in 9%. All patients continued to gain weight following the implementation of these conservative measures. PSG data (n=26) demonstrated mild to moderate obstruction, a mean apneahypopnea index (AHI) of 19.2±5.3 events/hour, and an oxygen saturation level <90% during only 4% of the total sleep time. CONCLUSIONS: Nonsurgical airway management was successful in patients who demonstrated consistent weight gain and mild to moderate obstruction on PSG, with a mean AHI of <20 events/hour.
Airway Management* ; Airway Obstruction ; Catheters ; Classification ; Demography ; Disease Management ; Gastrostomy ; Humans ; Infant ; Intubation, Intratracheal ; Length of Stay ; Nutritional Support ; Oxygen ; Pierre Robin Syndrome* ; Polysomnography ; Retrospective Studies ; Songbirds* ; Weight Gain

The laryngeal mask airway (LMA) Classic™ and Air-Q® are supralaryngeal devices used for airway management in routine and difficult pediatric airways. We describe a novel two-stage technique of insertion of the LMA Classic™ awake prior to induction of anesthesia, to assure oxygenation and ventilation, and after induction removal and placement of the Air-Q® for intubation using the flexible fiberoptic bronchoscope. The LMA Classic's™ pliable design and relatively small size allow it to be easily placed in awake infants. In contrast, the Air-Q® is an excellent device for intubation because of its larger internal diameter and removable 9 mm adapter. Our goal was to reduce unpredictability and potentially increase the safety of induction of anesthesia and intubation in infants with Pierre Robin sequence. By using these devices in a two-stage approach we created a technique for consistent oxygenation, ventilation, and intubation in these infants.
Airway Management ; Anesthesia ; Bronchoscopes ; Humans ; Infant* ; Intubation* ; Laryngeal Masks ; Oxygen ; Pierre Robin Syndrome* ; Ventilation

Patients with Pierre Robin sequence exhibit varying degrees of airway obstruction and feeding difficulty. In some patients, airway obstruction may be profound, warranting surgical intervention to maintain a patent airway. The purpose of this article is to highlight the advantages of the tongue-lip adhesion procedure for the management of airway obstruction in such patients compared to the currently available options.
Airway Obstruction ; Humans ; Pierre Robin Syndrome*

Patients with Pierre Robin syndrome are characterized by micrognathia, retrognathia, glossoptosis, and respiratory obstruction and are prone to have a difficult-to-intubate airway. The McGrath(R) MAC video laryngoscope provides a better view of the glottis than a Macintosh laryngoscope, but it is not easy to insert an endotracheal tube through the vocal cords because a video laryngoscope has a much greater curvature than that of a conventional direct laryngoscope and an endotracheal tube has a different curvature. The Frova Intubating Introducer is used as a railroad for an endotracheal tube in cases of a difficult airway. We thought that a combination of these two devices would make it easy to insert an endotracheal tube through the vocal cords, as a McGrath(R) MAC video laryngoscope provides a better glottic view and the Frova Intubating Introducer is a useful device for placing an endotracheal tube through the glottis. We report a successful endotracheal intubation with use of the McGrath(R) MAC video laryngoscope and Frova Intubating Introducer in a patient with Pierre Robin syndrome.
Airway Management ; Glottis ; Humans ; Intubation ; Intubation, Intratracheal ; Laryngoscopes* ; Pierre Robin Syndrome* ; Railroads ; Retrognathia ; Vocal Cords