1/5. Anaesthetic implications of Nager syndrome.Nager acrofacial dysostosis is an oromandibular hypogenesis syndrome with associated limb abnormalities. Although it shares some phenotypic features with Treacher-Collins syndrome, it is recognized as a separate disorder. The physical features of Nager syndrome include down slanted palpebral fissures, malar hypoplasia, a high nasal bridge, atretic external auditory canals, cleft palate and micrognathia. Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. Of primary concern to the anaesthetist are the midface and mandibular manifestations which may complicate perioperative airway management. These problems may also manifest in the postoperative period with airway obstruction. Associated defects have included vertebral malformations with reports of cervical spine involvement, congenital cardiac defects and upper limb defects affecting the preaxial or radial side. We describe a 7-year-old boy with Nager syndrome who required anaesthetic care during placement of a syringopleural shunt for drainage of a spinal cord syrinx. The perioperative implications of this disorder are reviewed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the Treacher-Collins syndrome, the acrofacial dysostoses (including Nager and Miller syndromes), the dysgnathia complex and the auriculo-condylar syndrome. Isolated microtia may also be present with involvement of other facial structures and distant organs. We report here a patient with first and second branchial arch anomalies, born to consanguineous parents. Pertinent physical findings include severe micrognathia, absence of the upper portion of the helices, atresia of the external meati and absence of the middle ear ossicles, mildly down-slanting palpebral fissures and a highly arched palate with a submucous cleft. Discussion of the differential diagnosis highlights the clinical overlap between these conditions. This constellation of findings may represent a more severe manifestation of the auriculo-condylar syndrome or a previously undescribed syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. Anaesthesia for Treacher Collins and Pierre Robin syndromes: a report of three cases.We present three patients with Treacher Collins or Pierre Robin syndromes who had historical and physical evidence of airway obstruction, difficulty feeding, and sleep disturbances. These preoperative findings correlated with difficult airway management intraoperatively. Based on this experience, we recommend that children with obstructive symptoms have laryngoscopy prior to anaesthetic induction. If the glottic opening is visualized, inhalational induction can proceed. If the glottic structures cannot be visualized, then the anaesthetist must choose between awake oral or nasal intubation, elective tracheostomy, or fiberoptic intubation. In all cases, a tracheostomy tray should be ready and a surgeon experienced in paediatric tracheostomy should be in attendance. After intubation, anaesthesia is best maintained with oxygen and a potent inhalational agent. Extubation should only be done with the patient fully awake and with emergency airway equipment immediately available. Postoperatively, these patients should be transferred to an intermediate care area or intensive care unit where they can be observed closely since delayed complications of airway obstruction are common in this group of patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. X-linked syndrome of branchial arch and other defects.We report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X-linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/5. Hemifacial microsomia with vertebral anomalies: case report.A case of hemifacial microsomia with vertebral anomalies is reported. The patient, a 15-year-old girl, shows the typical physical and radiologic findings of the syndrome; in addition a severe spine involvement is present.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |