1/13. Bilateral congenital choanal atresia and absence of respiratory distress.Bilateral congenital choanal atresia is considered a lethal congenital malformation in an obligatory nasal breathing neonate. Described herein are two cases of bilateral choanal atresia associated with craniofacial anomalies who did not present respiratory distress in the neonatal period. Our first patient had a complete unilateral cleft lip which facilitated oropharyngeal respiration. The second patient presented wory distress in the neonatal period by providing an oropharyngeal airway.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/13. Goldenhar's syndrome associated with cardiac malformations.A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
3/13. Difficult paediatric intubation when fibreoptic laryngoscopy fails.We report an unusual problem with fibreoptic bronchoscopy in an 8-year-old girl with Negar syndrome. She had a history of difficult airway since birth, and had undergone mandibular distraction for severe obstructive sleep apnoea when she was aged 2 years. Nagar syndrome is a Treacher-Collins like syndrome with normal intelligence, conductive bone deafness and problems with articulation. The patients have malar hypoplasia with down slanting palpebral fissures, high nasal bridge, micrognathia, absence of lower eyelashes, low set posteriorly rotated ears, preauricular tags, atresia of external ear canal, cleft palate, hypoplasia of thumb, with or without radius, and limited elbow extension. Protracted attempts with a fibreoptic bronchoscope failed to visualize the glottis, and this was only possible when the tube was guided to the larynx by blind nasal intubation. Apparently, the healing of the wounds for the mandibular distraction in the mandibular space on the inside of the rami of the mandible had caused differential fibrosis on either side of the hyoid, leading to a triplane distortion of the larynx with a left shift, clockwise rotation to a 2-8 o'clock direction and a slight tilt towards the left pharyngeal wall. The large epiglottis overlying this had precluded a view of the larynx. Finally, the older technique of breathguided intubation facilitated fibreoptic bronchoscopy to achieve tracheal intubation.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
4/13. Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome.Treacher Collins syndrome (TCS) is a rare inherited condition characterized by bilateral and symmetric abnormalities of structures within the first and second bronchial arches. The mechanism of inheritance is autosomal dominant with variable expressivity. Because of this variability in expression, some affected individuals exhibit virtually no overt clinical manifestations. However, most children with TCS present with the following classic facial features: down-sloping palpebral fissures, colobomata of the lower eyelid, scanty lower eyelashes, malar hypoplasia, and micro- or retrognathia. cleft palate is present in up to 35% of patients and an additional 30-40% have congenital palatopharyngeal incompetence. Abnormalities of the ear are very common and vary from minor malformations to severe microtia and hearing loss. hearing loss may be due to atresia of the auditory canals or ossicular malformation of the middle ear. Despite these many development abnormalities, TCS patients are usually of normal intelligence. We report the case of a 3 1/2-yr-old patient with TCS undergoing cleft palate repair and discuss fiberoptic intubation through a laryngeal mask airway using two endotracheal (ETT) tubes secured via an ETT connector.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
5/13. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation.- - - - - - - - - - ranking = 0.83333333333333keywords = atresia (Clic here for more details about this article) |
6/13. Treacher Collins syndrome with choanal atresia: a case report and review of disease features.Treacher Collins syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
7/13. Round window stimulation with an implantable hearing aid (Soundbridge) combined with autogenous reconstruction of the auricle - a new approach.BACKGROUND: Congenital malformations of the auricle are often combined with atresia of the outer ear canal and malformations of the ossicles, representing aesthetic as well as functional deficits. Optimal treatment should therefore address both aspects equally. This report describes a new approach, combining the reconstruction of the auricle with implantation of an active middle ear hearing aid, stimulating the round window membrane. METHOD: A 33-year-old male patient, with bilateral ear microtia, fibrous atresia of the external ear canals and malformation of the ossicles due to Treacher Collins-Franceschetti syndrome was included in the study. In stage one, the cartilage framework of the new auricle, made of autogenous rib cartilage, was fabricated and implanted. During stage two, the auricle was elevated, a retro-auricular sulcus was formed and a Vibrant MED-EL Soundbridge device was implanted. The transducer was coupled to the round window membrane. RESULTS: Both functional and aesthetical results were favourable. Aided thresholds were between 15 and 30 dB in the frequency range of 0.75-6 kHz, monosyllabic word understanding at 65 dB SPL increased from 0 to 80%. DISCUSSION: Combining aesthetic and functional rehabilitation, autogenous reconstruction of a new auricle together with the implantation of an active middle ear hearing aid, coupled to the round window membrane, is a promising new approach.- - - - - - - - - - ranking = 0.33333333333333keywords = atresia (Clic here for more details about this article) |
8/13. 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 = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
9/13. esophageal atresia complicating the Goldenhar anomalad.A 2200 g male infant was found to have esophageal atresia and esophageal fistula in addition to truncus arteriosus and oculo-auriculo-vertebral dysplasia. The presence of facial asymmetry in an infant with esophageal atresia should prompt a search for additional anomalies before surgery is contemplated.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
10/13. temporal bone histopathologic findings in oculoauriculovertebral dysplasia. Goldenhar's syndrome.The right temporal bone of a 6-month-old patient with oculoauriculovertebral dysplasia (Goldenhar's syndrome) was examined histopathologically. The most striking abnormalities were deformity of the auricle, atresia of the external auditory canal, severe malformation of middle ear structures, and incomplete development of the oval window. No inner ear abnormalities were identified in this case.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
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