Modified nasopharyngeal tube for upper airway obstruction.
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A modified nasopharyngeal tube is described that does not add airway dead space and resistance, is well tolerated, highly successful, and allows simultaneous use of oxygen prongs. This potentially reduces the need for surgical intervention to relieve high upper airway obstruction from Pierre-Robin syndrome and other causes. (+info)
Late presentation of upper airway obstruction in Pierre Robin sequence.
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A retrospective review was carried out of 11 consecutive patients with the Pierre Robin sequence referred to a tertiary paediatric referral centre over a five year period from 1993 to 1998. Ten patients were diagnosed with significant upper airway obstruction; seven of these presented late at between 24 and 51 days of age. Failure to thrive occurred in six of these seven infants at the time of presentation, and was a strong indicator of the severity of upper airway obstruction. Growth normalised on treatment of the upper airway obstruction with nasopharyngeal tube placement. All children had been reviewed by either an experienced general paediatrician or a neonatologist in the first week of life, suggesting that clinical signs alone are insufficient to alert the physician to the degree of upper airway obstruction or that obstruction developed gradually after discharge home. The use of polysomnography greatly improved the diagnostic accuracy in assessing the severity of upper airway obstruction and monitoring the response to treatment. This report highlights the prevalence of late presentation of upper airway obstruction in the Pierre Robin sequence and emphasises the need for close prospective respiratory monitoring in this condition. Objective measures such as polysomnography should be used, as clinical signs alone may be an inadequate guide to the degree of upper airway obstruction. (+info)
The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia.
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OBJECTIVE: To define parameters that enable the objective diagnosis of anomalies of the position and/or size of the fetal mandible in utero. DESIGN: Fetuses at 18-28 gestational weeks were examined by two- and three-dimensional ultrasound. The study included normal fetuses and fetuses with syndromes associated with known mandible pathology: Pierre Robin sequence or complex (n = 8); hemifacial microsomia (Treacher-Collins syndrome, n = 3); postaxial acrofacial dysostosis (n = 1). Fetuses with Down syndrome (n = 8) and cleft lip and palate without Pierre Robin sequence or complex (n = 18) were also studied. Retrognathia was assessed through the measurement of the inferior facial angle, defined on a mid-sagittal view, by the crossing of: 1) the line orthogonal to the vertical part of the forehead at the level of the synostosis of the nasal bones (reference line); 2) the line joining the tip of the mentum and the anterior border of the more protruding lip (profile line). Micrognathia was assessed through the calculation of the mandible width/maxilla width ratio on axial views obtained at the alveolar level. Mandible and maxilla widths were measured 10 mm posteriorly to the anterior osteous border. RESULTS: In normal fetuses, the inferior facial angle was constant over the time span studied. The mean (standard deviation) value of the inferior facial angle was 65.5 (8.13) degree. Consequently, an inferior facial angle value below 49.2 degree (mean - 2 standard deviations) defined retrognathism. All the fetuses with syndromes associated with mandible pathology had inferior facial angle values below the cut-off value. Using 49.2 degree or the rounded-up value of 50 degree as a cut-off point, the inferior facial angle had a sensitivity of 1.0, a specificity of 0.989, a positive predictive value of 0.750 and a negative predictive value of 1.0 to predict retrognathia. In normal fetuses, the mandible width/maxilla width ratio was constant over the time interval studied. The mean (standard deviation) value was 1.017 (0.116). Consequently, a mandible width/maxilla width ratio < 0.785 defined micrognathism. Mandible width/maxilla width ratio values were below this cut-off point in eight and in the normal range in four fetuses with syndromes associated with mandible pathology. CONCLUSIONS: Retrognathia and micrognathia are conditions that can be separately assessed. The use of inferior facial angle and mandible width/maxilla width ratio should help sonographic recognition and characterization of fetal retrognathic and micrognathic mandibles in utero. (+info)
Analysis of response covariationamong multiple topographies of food refusal.
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This study examined the effects of sequentially introducing treatment across multiple topographies of food refusal. Treatment with nonremoval of the spoon produced an increase in food acceptance and a decrease in disruption, but expulsion of food increased. When expulsion was treated, packing of food increased. Finally, when packing was treated, all refusal behaviors remained low, and acceptance continued to occur at high and stable levels. (+info)
Rigid nasendoscope with video camera system for intubation in infants with Pierre-Robin sequence.
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We describe an alternative intubation technique using a rigid nasendoscope and a video camera monitor system in two infants with Pierre-Robin sequence presenting for palatoplasty. After induction with an inhalational anaesthetic technique, the tracheas of the infants could not be intubated with direct laryngoscopy using a Wisconsin blade. In the absence of a flexible paediatric fibrescope, a rigid endoscope (2.7 mm, 70 degrees lateral illumination) was passed orally to provide a view of the glottis on the monitor screen. A tracheal tube, bent into a J-shape using a stylet, was inserted orally and manipulated into the trachea, under video guidance. This technique proved to be simple, permitting a favourable view of the glottis. It should be considered for passing a tracheal tube through the vocal cords in infants who present with a difficult airway. (+info)
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
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The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation. (+info)
Fetal hydrocolpos leading to Pierre Robin sequence: an unreported effect of oligohydramnios sequence.
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The presence of distal atretic vagina causing accumulation of fluid and mucus secretions in the proximal vaginal cavity resulted in fetal hydrocolpos. Obstructive uropathy developed gradually because of direct compression of hydrocolpos on bilateral lower ureters, resulting in oligohydramnios from decreased urine formation. Oligohydramnios inhibited normal mandibular development with resulting cleft palate and glossoptosis (Pierre Robin Sequence). The development of sequence of events in this case indicates Pierre Robin Sequence as another effect of Oligohydramnios Sequence arising out of deformational forces acting on cranio-facial structures. (+info)
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
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Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes. (+info)